Exploring the Genetic Landscape of Retinal Diseases in North-Western Pakistan Reveals a High Degree of Autozygosity and a Prevalent Founder Mutation in ABCA4.

Variants in more than 271 different genes have been linked to hereditary retinal diseases, making comprehensive genomic approaches mandatory for accurate diagnosis.

We explored the genetic landscape of retinal disorders in consanguineous families from North-Western Pakistan, harboring a population of approximately 35 million inhabitants that remains relatively isolated and highly inbred (~50% consanguinity).

We leveraged on the high degree of consanguinity by applying genome-wide high-density single-nucleotide polymorphism (SNP) genotyping followed by targeted Sanger sequencing of candidate gene(s) lying inside autozygous intervals. In addition, we performed whole-exome sequencing (WES) on at least one proband per family.

Wistar Rat Astrocytes
ABC-TC4278 1 vial Ask for price
Description: Characterization: 1. Cell Activity;- Recovery Viability ≥ 80%.2. Cell Purity;- GFAP-positive cells ≥ 70%.- β-tubulin III- or doublecortin- (Dcx-) positive cells ≤ 10%.- GalC-positive cells ≤ 10%.

Human IPSC - Astrocytes
IPS001 each
EUR 2484

Human Brain Astrocytes
cAP-0031 1Frozen Vial
EUR 594

Human brain astrocytes
HBMP202 1ml frozen Vial
EUR 620

Rat Primary Astrocytes
T4840 5x10^5 cells / 1.0 ml
EUR 975

Rat Primary Astrocytes
CC7F402 5x 10^5 Cells/Vial Ask for price

Mouse Astrocytes Cortex
ABC-TC3914 1 vial Ask for price
Description: Different parts of the C57 mouse brain, including the cortex, hippocampus, and cerebellum, are dissociated enzymatically and mechanically into suspension of single cells. Next, the cells are seeded, and the astrocytes are enriched in vitro, using specific medium and cultural conditions.

Human Retinal Astrocytes
ABC-TC3787 1 vial Ask for price
Description: Astrocytes make up the majority of the cells in the mammalian brain. They are the most variable in type, most intimately associated with all parts of neurons, and thus most functionally interesting in their relationships with neurons. They provide structural, trophic, and metabolic support to neurons and modulate synaptic activity. Impairment of these astrocyte functions during stroke and other insults can critically influence neuron survival. Furthermore, astrocytes have been implicated in the pathological processes of many neurological diseases. Long-term recovery after brain injury, through neurite outgrowth, synaptic plasticity, or neuron regeneration, is influenced by astrocyte surface molecule expression and trophic factor release. In addition, the death or survival of astrocytes themselves may affect the ultimate clinical outcome. Recognition of the importance of astrocytes in nervous system functioning is increasing, specifically regarding the modulation of neural activity. Much of what we have learned about astrocytes is from the in vitro studies and astrocyte cultures are continuing to provide a useful tool in exploring the diverse property of these cells.HRA from Gentaur Research Laboratories are isolated from human retina. HRA are cryopreserved at passage one and delivered frozen. Each vial contains 5×10^5 cells in 1 ml volume. HRA are characterized by immunofluorescent method with antibody to GFAP. HRA are negative for HIV-1, HBV, HCV, mycoplasma, bacteria, yeast and fungi. HRA are guaranteed to further expand for 15 population doublings at the conditions provided by Gentaur Research Laboratories.

Human Retinal Astrocytes
cAP-0115 1Frozen Vial
EUR 594

Human Retinal Astrocytes
HBMP204 1ml frozen Vial
EUR 620

Mouse Primary Astrocytes
T4540 5x10^5 cells / 1.0 ml Ask for price

Mouse Primary Astrocytes
CC7F610 5x 10^5 Cells/Vial Ask for price

Rabbit Primary Astrocytes
CC7F813 5x 10^5 Cells/Vial Ask for price

CD-1 Mouse Astrocytes
ABC-TC3272 1 vial Ask for price
Description: Astrocytes are the majority cell type of the mammalian brain. Astrocytes have been implicated in a variety of supportive functions for their partner neurons in the CNS

Human Astrocytes-Midbrain
ABC-TC3507 1 vial Ask for price
Description: Astrocytes make up the majority of the cells in the mammalian brain. They are the most variable in type, most intimately associated with all parts of neurons, and thus most functionally interesting in their relationships with neurons. They provide structural, trophic, and metabolic support to neurons and modulate synaptic activity. Impairment of these astrocyte functions during stroke and other insults can critically influence neuron survival. Furthermore, astrocytes have been implicated in the pathological processes of many neurological diseases. Long-term recovery after brain injury, through neurite outgrowth, synaptic plasticity, or neuron regeneration, is influenced by astrocyte surface molecule expression and trophic factor release. In addition, the death or survival of astrocytes themselves may affect the ultimate clinical outcome. Recognition of the importance of astrocytes in nervous system functioning is increasing, specifically regarding the modulation of neural activity. Much of what we have learned about astrocytes is from the in vitro studies and astrocyte cultures are continuing to provide a useful tool in exploring the diverse property of these cells.HA-mb from Gentaur Research Laboratories are isolated from human midbrain (mesencephalon). HA-mb are cryopreserved at passage one and delivered frozen. Each vial contains 5×10^5 cells in 1 ml volume. HA-mb are characterized by immunofluorescent method with antibody to GFAP. HA-mb are negative for HIV-1, HBV, HCV, mycoplasma, bacteria, yeast and fungi. HA-mb are guaranteed to further expand for 15 population doublings at the conditions provided by Gentaur Research Laboratories.

Mouse Astrocytes Cerebellar
ABC-TC3913 1 vial Ask for price
Description: Different parts of the C57 mouse brain, including the cortex, hippocampus, and cerebellum, are dissociated enzymatically and mechanically into suspension of single cells. Next, the cells are seeded, and the astrocytes are enriched in vitro, using specific medium and cultural conditions.

Rat Astrocytes-cerebellar
ABC-TC4078 1 vial Ask for price
Description: Astrocytes are the majority cell type of the mammalian brain. Astrocytes have been implicated in a variety of supportive functions for their partner neurons in the CNS, such as neuronal guidance during development

Mouse Astrocytes Hippocampal
ABC-TC3915 1 vial Ask for price
Description: Different parts of the C57 mouse brain, including the cortex, hippocampus, and cerebellum, are dissociated enzymatically and mechanically into suspension of single cells. Next, the cells are seeded, and the astrocytes are enriched in vitro, using specific medium and cultural conditions.

Rat Astrocytes-hippocampal
ABC-TC4079 1 vial Ask for price
Description: Astrocytes are the majority cell type of the mammalian brain. Astrocytes have been implicated in a variety of supportive functions for their partner neurons in the CNS, such as neuronal guidance during developmen

Human Astrocytes-Cerebellar
ABC-TC3505 1 vial Ask for price
Description: Astrocytes make up the majority of the cells in the mammalian brain. They are the most variable in type, most intimately associated with all parts of neurons, and thus most functionally interesting in their relationships with neurons. They provide structural, trophic, and metabolic support to neurons and modulate synaptic activity. Impairment of these astrocyte functions during stroke and other insults can critically influence neuron survival. Furthermore, astrocytes have been implicated in the pathological processes of many neurological diseases. Long-term recovery after brain injury, through neurite outgrowth, synaptic plasticity, or neuron regeneration, is influenced by astrocyte surface molecule expression and trophic factor release. In addition, the death or survival of astrocytes themselves may affect the ultimate clinical outcome. Recognition of the importance of astrocytes in nervous system functioning is increasing, specifically regarding the modulation of neural activity. Much of what we have learned about astrocytes is from the in vitro studies and astrocyte cultures are continuing to provide a useful tool in exploring the diverse property of these cells.HA-c from Gentaur Research Laboratories are isolated from human cerebellar. HA-c are cryopreserved at passage one and delivered frozen. Each vial contains 5×10^5 cells in 1 ml volume. HA-c are characterized by immunofluorescent method with antibody to GFAP. HA-c are negative for HIV-1, HBV, HCV, mycoplasma, bacteria, yeast and fungi. HA-c are guaranteed to further expand for 15 population doublings at the conditions provided by Gentaur Research Laboratories.

C57 Mouse Mixed Astrocytes
ABC-TC3920 1 vial Ask for price
Description: Mouse Brain Mixed Astrocytes are obtained from C57 black or CD1 mouse brain, passaged once and prepared as cell suspensions for shipment. Each vial contains approximately 1 million cells. The astrocytes can be easily thawed and cultured.

RFP- Human Brain Astrocytes
HBMP203 1ml frozen Vial
EUR 850

Human Brain Astrocytes (HBA)
HMP202 500,000+ cells - Frozen
EUR 1022.76

Human Brain Astrocytes (HBA)
MBS556034-INQUIRE INQUIRE Ask for price

Human Brain Astrocytes (HBA)
MBS556035-INQUIRE INQUIRE Ask for price

SD Rat Cortical Astrocytes
SCCAC-00001 1*10^6/vial
EUR 839

Human Astrocytes-Hippocampal
ABC-TC3506 1 vial Ask for price
Description: Astrocytes make up the majority of the cells in the mammalian brain. They are the most variable in type, most intimately associated with all parts of neurons, and thus most functionally interesting in their relationships with neurons. They provide structural, trophic, and metabolic support to neurons and modulate synaptic activity. Impairment of these astrocyte functions during stroke and other insults can critically influence neuron survival. Furthermore, astrocytes have been implicated in the pathological processes of many neurological diseases. Long-term recovery after brain injury, through neurite outgrowth, synaptic plasticity, or neuron regeneration, is influenced by astrocyte surface molecule expression and trophic factor release. In addition, the death or survival of astrocytes themselves may affect the ultimate clinical outcome. Recognition of the importance of astrocytes in nervous system functioning is increasing, specifically regarding the modulation of neural activity. Much of what we have learned about astrocytes is from the in vitro studies and astrocyte cultures are continuing to provide a useful tool in exploring the diverse property of these cells.HA-h from Gentaur Research Laboratories are isolated from human brain hippocampal tissue. HA-h are cryopreserved at passage one and delivered frozen. Each vial contains 5×10^5 cells in 1 ml volume. HA-h are characterized by immunofluorescent method with antibody to GFAP. HA-h are negative for HIV-1, HBV, HCV, mycoplasma, bacteria, yeast and fungi. HA-h are guaranteed to further expand for 15 population doublings at the conditions provided by Gentaur Research Laboratories.

Rat Brain Cortex Astrocytes
ABC-TC4090 1 vial Ask for price
Description: Rat Brain Cortex Astrocytes are obtained from rat brain, passaged once and prepared as cell suspensions for shipment on dry ice. Each vial contains approximately 1 million cells. Astrocytes can be easily thawed and cultured.

GFP-Human Brain Astrocytes
ABC-FC0038 1 vial Ask for price
Description: HBAs are isolated from normal human brain cortical tissue. GFP-HBAs are selected from puromycin resistant HBAs after infected with GFP Expressing lentiviral particles. The cells are shipped in frozen vials (the cells are provided @ passage 3). Astrocytes Growth Medium is recommended for cell culture and these cells have a minimum average population doubling levels 8 when cultured following the detailed protocol described below.

GFP-Human brain astrocytes
HBMP201 1ml frozen Vial
EUR 850

F344 Rat Cortical Astrocytes
FCCAC-00001 1*10^6/vial
EUR 839

Rat Brain Primary Astrocytes
CC4F22 5x 10^5 Cells/Vial Ask for price

Human Astrocytes-Brain Stem
ABC-TC3504 1 vial Ask for price
Description: Astrocytes make up the majority of the cells in the mammalian brain. They are the most variable in type, most intimately associated with all parts of neurons, and thus most functionally interesting in their relationships with neurons. They provide structural, trophic, and metabolic support to neurons and modulate synaptic activity. Impairment of these astrocyte functions during stroke and other insults can critically influence neuron survival. Furthermore, astrocytes have been implicated in the pathological processes of many neurological diseases. Long-term recovery after brain injury, through neurite outgrowth, synaptic plasticity, or neuron regeneration, is influenced by astrocyte surface molecule expression and trophic factor release. In addition, the death or survival of astrocytes themselves may affect the ultimate clinical outcome. Recognition of the importance of astrocytes in nervous system functioning is increasing, specifically regarding the modulation of neural activity. Much of what we have learned about astrocytes is from the in vitro studies and astrocyte cultures are continuing to provide a useful tool in exploring the diverse property of these cells.HA-bs from Gentaur Research Laboratories are isolated from human brain stem. HA-bs are cryopreserved at passage one and delivered frozen. Each vial contains 5×10^5 cells in 1 ml volume. HA-bs are characterized by immunofluorescent method with antibody to GFAP. HA-bs are negative for HIV-1, HBV, HCV, mycoplasma, bacteria, yeast and fungi. HA-bs are guaranteed to further expand for 15 population doublings at the conditions provided by Gentaur Research Laboratories.

Rat Brain Striatum Astrocytes
ABC-TC4098 1 vial Ask for price
Description: Rat Brain Striatum Astrocytes are obtained from rat brain, passaged once and prepared as cell suspensions for shipment on dry ice. Each vial contains approximately 1 million cells. Astrocytes can be easily thawed and cultured.

Human Astrocytes-Spinal Cord
ABC-TC3508 1 vial Ask for price
Description: Astrocytes make up the majority of the cells in the mammalian brain. They are the most variable in type, most intimately associated with all parts of neurons, and thus most functionally interesting in their relationships with neurons. They provide structural, trophic, and metabolic support to neurons and modulate synaptic activity. Impairment of these astrocyte functions during stroke and other insults can critically influence neuron survival. Furthermore, astrocytes have been implicated in the pathological processes of many neurological diseases. Long-term recovery after brain injury, through neurite outgrowth, synaptic plasticity, or neuron regeneration, is influenced by astrocyte surface molecule expression and trophic factor release. In addition, the death or survival of astrocytes themselves may affect the ultimate clinical outcome. Recognition of the importance of astrocytes in nervous system functioning is increasing, specifically regarding the modulation of neural activity. Much of what we have learned about astrocytes is from the in vitro studies and astrocyte cultures are continuing to provide a useful tool in exploring the diverse property of these cells.HA-sp from Gentaur Research Laboratories are isolated from human spinal cord. HA-sp are cryopreserved at passage one and delivered frozen. Each vial contains 5×10^5 cells in 1 ml volume. HA-sp are characterized by immunofluorescent method with antibody to GFAP. HA-sp are negative for HIV-1, HBV, HCV, mycoplasma, bacteria, yeast and fungi. HA-sp are guaranteed to further expand for 15 population doublings at the conditions provided by Gentaur Research Laboratories.

Human Primary Astrocytes, fetal
T4033 5x10^5 cells / 1.0 ml
EUR 1375

Wistar Rat Cortical Astrocytes
WCCAC-00001 1*10^6/vial
EUR 839

Rat Retinal Primary Astrocytes
CC4F18 5x 10^5 Cells/Vial Ask for price

Mouse Brain Primary Astrocytes
CC4F21 5x 10^5 Cells/Vial Ask for price

Human iPSC-derived Astrocytes
CSC-00836L One Frozen vial Ask for price

Canine Brain Primary Astrocytes
CC4F20 5x 10^5 Cells/Vial Ask for price

Rabbit Brain Primary Astrocytes
CC4F23 5x 10^5 Cells/Vial Ask for price

Monkey Brain Primary Astrocytes
CC7F988 5x 10^5 Cells/Vial Ask for price

Rat Brain Hippocampus Astrocytes
ABC-TC4094 1 vial Ask for price
Description: Rat Brain Hippocampus Astrocytes are obtained from rat brain, passaged once and prepared as cell suspensions for shipment on dry ice. Each vial contains approximately 1 million cells. Astrocytes can be easily thawed and cultured.

Mouse Retinal Primary Astrocytes
CC4F17 5x 10^5 Cells/Vial Ask for price

Rat Olfactory Primary Astrocytes
CC4F209 5x 10^5 Cells/Vial Ask for price

Fischer 344 (F344) Rat Astrocytes
ABC-TC3428 1 vial Ask for price
Description: Characterization: 1. Cell Activity; Recovery Viability ≥ 80%. 2. Cell Purity; - GFAP-positive cell percentage ≥ 70%. - β-tubulin III- or doublecortin- (Dcx-) positive cell percentage ≤ 10%. - GalC-positive cell percentage ≤ 10%.

Canine Retinal Primary Astrocytes
CC4F16 5x 10^5 Cells/Vial Ask for price

Rabbit Retinal Primary Astrocytes
CC4F19 5x 10^5 Cells/Vial Ask for price

Rat Trigeminal Primary Astrocytes
CC7F408 5x 10^5 Cells/Vial Ask for price

Primary Rat Brain Astrocytes (BA)
CSI011Ra01 5X10^5
EUR 960

iPSC Astrocytes Differentiation kit
CSK-IC010 One Kit Ask for price

Mouse Trigeminal Primary Astrocytes
CC7F616 5x 10^5 Cells/Vial Ask for price

Sprague-Dawly (SD) Rat Astrocytes
ABC-TC4259 1 vial Ask for price
Description: Characterization: 1. Cell Activity;- Recovery Viability ≥ 80%.2. Cell Purity;- GFAP-positive cells ≥ 70%.- β-tubulin III- or doublecortin- (Dcx-) positive cells ≤ 10%.- GalC-positive cells ≤ 10%.

Primary Mouse Brain Astrocytes (BA)
CSI011Mu01 5X10^5
EUR 890

Rabbit Trigeminal Primary Astrocytes
CC7F819 5x 10^5 Cells/Vial Ask for price

Rat Spinal Cord Primary Astrocytes
CC4F176 5x 10^5 Cells/Vial Ask for price

Immortalized Human Astrocytes-SV40T
CSC-C12025Z One Frozen vial Ask for price

Mouse Spinal Cord Prmary Astrocytes
CC9F56 5x 10^5 Cells/Vial Ask for price

Mouse Spinal Cord Primary Astrocytes
CC7F617 5x 10^5 Cells/Vial Ask for price

GFP Expressing Human Brain Astrocytes
cAP-0031GFP 1Frozen Vial
EUR 782.1

RFP Expressing Human Brain Astrocytes
cAP-0031RFP 1Frozen Vial
EUR 782.1

GFP Expressing Human Brain Astrocytes
HMP201 500,000 Cells - Frozen
EUR 1294.92

GFP Expressing Human Brain Astrocytes
MBS556033-INQUIRE INQUIRE Ask for price

Rabbit Spinal Cord Primary Astrocytes
CC7F820 5x 10^5 Cells/Vial Ask for price

Porcine Spinal Cord Primary Astrocytes
CCEL25 5x 10^5 Cells/Vial Ask for price

Mouse Olfactory Bulb Primary Astrocytes
CC9F51 5x 10^5 Cells/Vial Ask for price

Immortalized Human Astrocytes, fetal - SV40
T0280 1x106 cells / 1.0 ml
EUR 3950

Immortalized Mouse Astrocytes - SV40T (IMA2.1)
T0289 1x106 cells / 1.0 ml
EUR 3950

Rat Brain Cx-Hi-Cp Mix Astrocytes
ABC-TC4092 1 vial Ask for price
Description: Rat Brain Cx-Hi-Cp Mix Astrocytes are obtained from rat brain, passaged once and prepared as cell suspensions for shipment on dry ice. Each vial contains approximately 1 million cells. Astrocytes can be easily thawed and cultured.

Immortalized Human Astrocytes, fetal - hTERT
T0281 1x106 cells / 1.0 ml
EUR 3950

HighQC™ Human IPSC-Derived Astrocytes
ABC-SC2111 1 vial Ask for price
Description: These are derived from integration-free, induced pluripotent stem cells (iPSCs) under fully defined growth conditions using a completely reproducible process to enable researchers to gain further insight into the mechanisms that govern CNS development, disease onset and drug response.

Complete Medium For Rat Cortical Astrocytes
RAXAC-90011 500mL
EUR 250

Astrocytes Mature (iPSC from Blood Cells; Male)
ASE-9322M 1 vial (1 x 10^6)
EUR 546
Description: 12 month

PED/PEA-15, CT (15kD Phosphoprotein Enriched in Astrocytes, Phosphoprotein Enriched in Astrocytes 15kD, Phosphoprotein Enriched in Astrocytes 15, PEA15, PEA-15 Protein, PED, Astrocytic Phosphoprotein PEA-15, HMAT1, HUMMAT1H, MAT1, MAT1H)
MBS643353-005mg 0.05mg
EUR 745

PED/PEA-15, CT (15kD Phosphoprotein Enriched in Astrocytes, Phosphoprotein Enriched in Astrocytes 15kD, Phosphoprotein Enriched in Astrocytes 15, PEA15, PEA-15 Protein, PED, Astrocytic Phosphoprotein PEA-15, HMAT1, HUMMAT1H, MAT1, MAT1H)
MBS643353-5x005mg 5x0.05mg
EUR 3195

Astrocytes Mature (iPSC from Blood Cells; Female)
ASE-9322MF 1 vial (1 x 10^6)
EUR 546
Description: 12 month

Phosphoprotein Enriched in Astrocytes 15 Protein
abx262863-10mg 10 mg
EUR 325

Phosphoprotein Enriched in Astrocytes 15 Protein
20-abx262863
  • Ask for price
  • Ask for price
  • Ask for price
  • 2 µg
  • 10 ug
  • 1 mg

Phosphoprotein Enriched in Astrocytes 15 Protein
abx262863-25mg 25 mg
EUR 6575

Phosphoprotein Enriched in Astrocytes 15 Protein
abx262863-5mg 5 mg
EUR 225

Immortalized Human Adult Brain Astrocytes (AST-1)
T0783 1x10^6 cells / 1.0 ml
EUR 3950

Astrocytes Precursors (iPSC from Blood Cells; Male)
ASE-9322P 1 vial (1 x 10^6)
EUR 448.8
Description: 12 month

Immortalized Adult Rat Hippocampal Astrocytes - SV40
T9202 1x10^6 cells / 1.0 ml
EUR 3950

Astrocytes Precursors (iPSC from Blood Cells; Female)
ASE-9322PF 1 vial (1 x 10^6)
EUR 448.8
Description: 12 month

Rat Brain PrimaCell™7: Normal Nerve Astrocytes
2-82518 1 Kit
EUR 1039.5

PED/PEA-15, CT (15kD Phosphoprotein Enriched in Astrocytes, Phosphoprotein Enriched in Astrocytes 15kD, Phosphoprotein Enriched in Astrocytes 15, PEA15, PEA-15 Protein, Phosphoprotein Enriched in Diabetes, PED, Astrocytic Phosphoprotein PEA-15, HMAT1, HUM
MBS6492579-02mL 0.2mL
EUR 980

PED/PEA-15, CT (15kD Phosphoprotein Enriched in Astrocytes, Phosphoprotein Enriched in Astrocytes 15kD, Phosphoprotein Enriched in Astrocytes 15, PEA15, PEA-15 Protein, Phosphoprotein Enriched in Diabetes, PED, Astrocytic Phosphoprotein PEA-15, HMAT1, HUM
MBS6492579-5x02mL 5x0.2mL
EUR 4250

PED/PEA-15, CT (15kD Phosphoprotein Enriched in Astrocytes, Phosphoprotein Enriched in Astrocytes 15kD, Phosphoprotein Enriched in Astrocytes 15, PEA15, PEA-15 Protein, Phosphoprotein Enriched in Diabetes, PED, Astrocytic Phosphoprotein PEA-15, HMAT1, HUM
MBS6492580-02mL 0.2mL
EUR 980

PED/PEA-15, CT (15kD Phosphoprotein Enriched in Astrocytes, Phosphoprotein Enriched in Astrocytes 15kD, Phosphoprotein Enriched in Astrocytes 15, PEA15, PEA-15 Protein, Phosphoprotein Enriched in Diabetes, PED, Astrocytic Phosphoprotein PEA-15, HMAT1, HUM
MBS6492580-5x02mL 5x0.2mL
EUR 4250

PED/PEA-15, CT (15kD Phosphoprotein Enriched in Astrocytes, Phosphoprotein Enriched in Astrocytes 15kD, Phosphoprotein Enriched in Astrocytes 15, PEA15, PEA-15 Protein, Phosphoprotein Enriched in Diabetes, PED, Astrocytic Phosphoprotein PEA-15, HMAT1, HUM
MBS6492581-02mL 0.2mL
EUR 980

PED/PEA-15, CT (15kD Phosphoprotein Enriched in Astrocytes, Phosphoprotein Enriched in Astrocytes 15kD, Phosphoprotein Enriched in Astrocytes 15, PEA15, PEA-15 Protein, Phosphoprotein Enriched in Diabetes, PED, Astrocytic Phosphoprotein PEA-15, HMAT1, HUM
MBS6492581-5x02mL 5x0.2mL
EUR 4250

PED/PEA-15, CT (15kD Phosphoprotein Enriched in Astrocytes, Phosphoprotein Enriched in Astrocytes 15kD, Phosphoprotein Enriched in Astrocytes 15, PEA15, PEA-15 Protein, Phosphoprotein Enriched in Diabetes, PED, Astrocytic Phosphoprotein PEA-15, HMAT1, HUM
MBS6492582-02mL 0.2mL
EUR 980

PED/PEA-15, CT (15kD Phosphoprotein Enriched in Astrocytes, Phosphoprotein Enriched in Astrocytes 15kD, Phosphoprotein Enriched in Astrocytes 15, PEA15, PEA-15 Protein, Phosphoprotein Enriched in Diabetes, PED, Astrocytic Phosphoprotein PEA-15, HMAT1, HUM
MBS6492582-5x02mL 5x0.2mL
EUR 4250

PED/PEA-15, CT (15kD Phosphoprotein Enriched in Astrocytes, Phosphoprotein Enriched in Astrocytes 15kD, Phosphoprotein Enriched in Astrocytes 15, PEA15, PEA-15 Protein, Phosphoprotein Enriched in Diabetes, PED, Astrocytic Phosphoprotein PEA-15, HMAT1, HUM
MBS6492583-02mL 0.2mL
EUR 980

PED/PEA-15, CT (15kD Phosphoprotein Enriched in Astrocytes, Phosphoprotein Enriched in Astrocytes 15kD, Phosphoprotein Enriched in Astrocytes 15, PEA15, PEA-15 Protein, Phosphoprotein Enriched in Diabetes, PED, Astrocytic Phosphoprotein PEA-15, HMAT1, HUM
MBS6492583-5x02mL 5x0.2mL
EUR 4250

PED/PEA-15, CT (15kD Phosphoprotein Enriched in Astrocytes, Phosphoprotein Enriched in Astrocytes 15kD, Phosphoprotein Enriched in Astrocytes 15, PEA15, PEA-15 Protein, Phosphoprotein Enriched in Diabetes, PED, Astrocytic Phosphoprotein PEA-15, HMAT1, HUM
MBS6492584-01mL 0.1mL
EUR 980

PED/PEA-15, CT (15kD Phosphoprotein Enriched in Astrocytes, Phosphoprotein Enriched in Astrocytes 15kD, Phosphoprotein Enriched in Astrocytes 15, PEA15, PEA-15 Protein, Phosphoprotein Enriched in Diabetes, PED, Astrocytic Phosphoprotein PEA-15, HMAT1, HUM
MBS6492584-5x01mL 5x0.1mL
EUR 4250

PED/PEA-15, CT (15kD Phosphoprotein Enriched in Astrocytes, Phosphoprotein Enriched in Astrocytes 15kD, Phosphoprotein Enriched in Astrocytes 15, PEA15, PEA-15 Protein, Phosphoprotein Enriched in Diabetes, PED, Astrocytic Phosphoprotein PEA-15, HMAT1, HUM
MBS6492585-01mL 0.1mL
EUR 980

PED/PEA-15, CT (15kD Phosphoprotein Enriched in Astrocytes, Phosphoprotein Enriched in Astrocytes 15kD, Phosphoprotein Enriched in Astrocytes 15, PEA15, PEA-15 Protein, Phosphoprotein Enriched in Diabetes, PED, Astrocytic Phosphoprotein PEA-15, HMAT1, HUM
MBS6492585-5x01mL 5x0.1mL
EUR 4250

PED/PEA-15, CT (15kD Phosphoprotein Enriched in Astrocytes, Phosphoprotein Enriched in Astrocytes 15kD, Phosphoprotein Enriched in Astrocytes 15, PEA15, PEA-15 Protein, Phosphoprotein Enriched in Diabetes, PED, Astrocytic Phosphoprotein PEA-15, HMAT1, HUM
MBS6492586-01mL 0.1mL
EUR 980

PED/PEA-15, CT (15kD Phosphoprotein Enriched in Astrocytes, Phosphoprotein Enriched in Astrocytes 15kD, Phosphoprotein Enriched in Astrocytes 15, PEA15, PEA-15 Protein, Phosphoprotein Enriched in Diabetes, PED, Astrocytic Phosphoprotein PEA-15, HMAT1, HUM
MBS6492586-5x01mL 5x0.1mL
EUR 4250

PED/PEA-15, CT (15kD Phosphoprotein Enriched in Astrocytes, Phosphoprotein Enriched in Astrocytes 15kD, Phosphoprotein Enriched in Astrocytes 15, PEA15, PEA-15 Protein, Phosphoprotein Enriched in Diabetes, PED, Astrocytic Phosphoprotein PEA-15, HMAT1, HUM
MBS6492587-01mL 0.1mL
EUR 980

PED/PEA-15, CT (15kD Phosphoprotein Enriched in Astrocytes, Phosphoprotein Enriched in Astrocytes 15kD, Phosphoprotein Enriched in Astrocytes 15, PEA15, PEA-15 Protein, Phosphoprotein Enriched in Diabetes, PED, Astrocytic Phosphoprotein PEA-15, HMAT1, HUM
MBS6492587-5x01mL 5x0.1mL
EUR 4250

PED/PEA-15, CT (15kD Phosphoprotein Enriched in Astrocytes, Phosphoprotein Enriched in Astrocytes 15kD, Phosphoprotein Enriched in Astrocytes 15, PEA15, PEA-15 Protein, Phosphoprotein Enriched in Diabetes, PED, Astrocytic Phosphoprotein PEA-15, HMAT1, HUM
MBS6492588-01mL 0.1mL
EUR 980

PED/PEA-15, CT (15kD Phosphoprotein Enriched in Astrocytes, Phosphoprotein Enriched in Astrocytes 15kD, Phosphoprotein Enriched in Astrocytes 15, PEA15, PEA-15 Protein, Phosphoprotein Enriched in Diabetes, PED, Astrocytic Phosphoprotein PEA-15, HMAT1, HUM
MBS6492588-5x01mL 5x0.1mL
EUR 4250

PED/PEA-15, CT (15kD Phosphoprotein Enriched in Astrocytes, Phosphoprotein Enriched in Astrocytes 15kD, Phosphoprotein Enriched in Astrocytes 15, PEA15, PEA-15 Protein, Phosphoprotein Enriched in Diabetes, PED, Astrocytic Phosphoprotein PEA-15, HMAT1, HUM
MBS6492589-02mL 0.2mL
EUR 980

PED/PEA-15, CT (15kD Phosphoprotein Enriched in Astrocytes, Phosphoprotein Enriched in Astrocytes 15kD, Phosphoprotein Enriched in Astrocytes 15, PEA15, PEA-15 Protein, Phosphoprotein Enriched in Diabetes, PED, Astrocytic Phosphoprotein PEA-15, HMAT1, HUM
MBS6492589-5x02mL 5x0.2mL
EUR 4250

We identified 7 known and 4 novel variants in a total of 10 genes (ABCA4, BBS2, CNGA1, CNGA3, CNGB3, MKKS, NMNAT1, PDE6B, RPE65, and TULP1) previously known to cause inherited retinal diseases. In spite of all families being consanguineous, compound heterozygosity was detected in one family.

All homozygous pathogenic variants resided in autozygous intervals ≥2.0 Mb in size. Putative founder variants were observed in the ABCA4 (NM_000350.2:c.214G>A; p.Gly72Arg; ten families) and NMNAT1 genes (NM_022787.3:c.25G>A; p.Val9Met; two families). We conclude that geographic isolation and sociocultural tradition of intrafamilial mating in North-Western Pakistan favor both the clinical manifestation of rare “generic” variants and the prevalence of founder mutations.