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	AcceGen	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	Neuromics	each	EUR 2484

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

Human Brain Astrocytes
cAP-0031	Angio Proteomie	1Frozen Vial	EUR 594

Human brain astrocytes
HBMP202	Alphabioregen	1ml frozen Vial	EUR 620

Mouse Astrocytes Cortex
ABC-TC3914	AcceGen	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	AcceGen	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.

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

Human Retinal Astrocytes
cAP-0115	Angio Proteomie	1Frozen Vial	EUR 594

Human Retinal Astrocytes
HBMP204	Alphabioregen	1ml frozen Vial	EUR 620

CD-1 Mouse Astrocytes
ABC-TC3272	AcceGen	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	AcceGen	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	AcceGen	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	AcceGen	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	AcceGen	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	AcceGen	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

C57 Mouse Mixed Astrocytes
ABC-TC3920	AcceGen	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.

Human Brain Astrocytes (HBA)
HMP202	Neuromics	500,000+ cells - Frozen	EUR 1296

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

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

Human Astrocytes-Cerebellar
ABC-TC3505	AcceGen	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.

Rat Brain Cortex Astrocytes
ABC-TC4090	AcceGen	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.

Human Astrocytes-Hippocampal
ABC-TC3506	AcceGen	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.

GFP-Human Brain Astrocytes
ABC-FC0038	AcceGen	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.

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

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

Human Astrocytes-Brain Stem
ABC-TC3504	AcceGen	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	AcceGen	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	AcceGen	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	ABM	5x10^5 cells / 1.0 ml	EUR 1375

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

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

Fischer 344 (F344) Rat Astrocytes
ABC-TC3428	AcceGen	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%.

Rat Brain Hippocampus Astrocytes
ABC-TC4094	AcceGen	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.

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

Sprague-Dawly (SD) Rat Astrocytes
ABC-TC4259	AcceGen	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	Cloud-Clone	5X10^5	EUR 890

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

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

GFP Expressing Human Brain Astrocytes
HMP201	Neuromics	500,000 Cells - Frozen	EUR 1624.8

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

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

Rat Brain Cx-Hi-Cp Mix Astrocytes
ABC-TC4092	AcceGen	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 - SV40
T0280	ABM	1x106 cells / 1.0 ml	EUR 3950

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

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

HighQC™ Human IPSC-Derived Astrocytes
ABC-SC2111	AcceGen	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	Cyagen	500mL	EUR 250

Rat Brain PrimaCell7: Normal Nerve Astrocytes
2-82518	CHI Scientific	1 Kit	Ask for price

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

Mouse Brain PrimaCell8: Normal Nerve Astrocytes
2-82017	CHI Scientific	1 Kit	Ask for price

Human Brain PrimaCell8: Normal Nerve Astrocytes
2-96020	CHI Scientific	1 Kit	Ask for price

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

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

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

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

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

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

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

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

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

Complete Medium For Mouse Cortical Astrocytes Culture
MUXAC-90011	Cyagen	500mL	EUR 250

Human Induced Pluripotent Stem Cells-Derived Astrocytes
cAP-0500-002-03	Angio Proteomie	1Frozen Vial	EUR 742.5

Recombinant Human Phosphoprotein Enriched in Astrocytes 15
7-05845	CHI Scientific	2µg	Ask for price

Recombinant Human Phosphoprotein Enriched in Astrocytes 15
7-05846	CHI Scientific	10µg	Ask for price

Recombinant Human Phosphoprotein Enriched in Astrocytes 15
7-05847	CHI Scientific	1mg	Ask for price

Phosphoprotein Enriched in Astrocytes 15 Human Recombinant
rAP-4440	Angio Proteomie	Inquiry	Ask for price

Rat Brain PrimaCell7: Normal Nerve Astrocytes Growth Medium
9-25018	CHI Scientific	5 x 100 ml	Ask for price

Mouse Brain PrimaCell8: Normal Nerve Astrocytes Growth Medium
9-32017	CHI Scientific	5 x 100 ml	Ask for price

Human Brain PrimaCell8: Normal Nerve Astrocytes Growth Medium
9-46020	CHI Scientific	5 x 100 ml	Ask for price

Astrocytes Precursors Starter Kit (iPSC from Blood Cells; Male)
ASE-9322PK	Applied StemCell	1 Kit	EUR 497.4
Description: 12 month

Rat Brain Tissue Preparation Buffer 7: Normal Nerve Astrocytes
9-80225	CHI Scientific	1 x 100 ml	Ask for price

Astrocytes Precursors Starter Kit (iPSC from Blood Cells; Female)
ASE-9322PKF	Applied StemCell	1 Kit	EUR 497.4
Description: 12 month

Human Brain Tissue Preparation Buffer 8: Normal Nerve Astrocytes
9-80020	CHI Scientific	1 x 100 ml	Ask for price

Mouse Brain Tissue Preparation Buffer 8: Normal Nerve Astrocytes
9-80131	CHI Scientific	1 x 100 ml	Ask for price

PEA15 (untagged)-Human phosphoprotein enriched in astrocytes 15 (PEA15)
SC108132	Origene Technologies GmbH	10 µg	Ask for price

Cas9 Expressing Immortalized Human Astrocytes, Fetal - hTERT Cell Line
T3452	ABM	1x10^6 cells / 1.0 ml	EUR 3950

PEA15 (GFP-tagged) - Human phosphoprotein enriched in astrocytes 15 (PEA15)
RG205507	Origene Technologies GmbH	10 µg	Ask for price

PEA15 Phosphoprotein Enriched in Astrocytes 15 Human Recombinant Protein
PROTQ15121	BosterBio	Regular: 10ug	EUR 380.4
Description: PEA15 Human Recombinant produced in E.Coli is a single, non-glycosylated, polypeptide chain containing 130 amino acids (1-130 a.a.) and having a molecular mass of 15kDa.;The PEA15 is purified by proprietary chromatographic techniques.

GFP Stably Expressing Immortalized Human Astrocytes, Fetal - hTERT Cell Line
T3962	ABM	1x10^6 cells / 1.0 ml	EUR 3950

RFP Stably Expressing Immortalized Human Astrocytes, Fetal - hTERT Cell Line
T3972	ABM	1x10^6 cells / 1.0 ml	EUR 3950

PEA15 (Myc-DDK-tagged)-Human phosphoprotein enriched in astrocytes 15 (PEA15)
RC205507	Origene Technologies GmbH	10 µg	Ask for price

Pea15 (untagged ORF) - Rat phosphoprotein enriched in astrocytes 15A (Pea15a), (10 ug)
RN204927	Origene Technologies GmbH	10 µg	Ask for price

Lenti ORF clone of Human phosphoprotein enriched in astrocytes 15 (PEA15), mGFP tagged
RC205507L2	Origene Technologies GmbH	10 µg	Ask for price

Lenti ORF clone of Human phosphoprotein enriched in astrocytes 15 (PEA15), mGFP tagged
RC205507L4	Origene Technologies GmbH	10 µg	Ask for price

Pea15 (Myc-DDK-tagged ORF) - Rat phosphoprotein enriched in astrocytes 15A (Pea15a), (10 ug)
RR204927	Origene Technologies GmbH	10 µg	Ask for price

Lenti ORF clone of Human phosphoprotein enriched in astrocytes 15 (PEA15), Myc-DDK-tagged
RC205507L1	Origene Technologies GmbH	10 µg	Ask for price

Lenti ORF clone of Human phosphoprotein enriched in astrocytes 15 (PEA15), Myc-DDK-tagged
RC205507L3	Origene Technologies GmbH	10 µg	Ask for price

3`UTR clone of phosphoprotein enriched in astrocytes 15 (PEA15) for miRNA target validation
SC216908	Origene Technologies GmbH	10 µg	Ask for price

PEA15 (untagged) - Human phosphoprotein enriched in astrocytes 15 (PEA15), transcript variant 4
SC333563	Origene Technologies GmbH	10 µg	Ask for price

PEA15 (untagged) - Human phosphoprotein enriched in astrocytes 15 (PEA15), transcript variant 3
SC333781	Origene Technologies GmbH	10 µg	Ask for price

PEA15 (untagged) - Human phosphoprotein enriched in astrocytes 15 (PEA15), transcript variant 1
SC333979	Origene Technologies GmbH	10 µg	Ask for price

Rat Brain PrimaCell7: Normal Nerve Astrocytes Growth Supplements with Serum (for 500 ml medium)
9-26018	CHI Scientific	1 Set	Ask for price

Mouse Brain PrimaCell8: Normal Nerve Astrocytes Growth Supplements with Serum (for 500 ml medium)
9-33017	CHI Scientific	1 Set	Ask for price

Human Brain PrimaCell8: Normal Nerve Astrocytes Growth Supplements with Serum (for 500 ml medium)
9-47020	CHI Scientific	1 Set	Ask for price

Pea15a (untagged) - Mouse phosphoprotein enriched in astrocytes 15A (cDNA clone MGC:47406 IMAGE:4500957), (10ug)
MC206379	Origene Technologies GmbH	10 µg	Ask for price

Pea15a (GFP-tagged) - Mouse phosphoprotein enriched in astrocytes 15A (Pea15a), transcript variant 2
MG200734	Origene Technologies GmbH	10 µg	Ask for price

PEA15 (myc-DDK-tagged) - Human phosphoprotein enriched in astrocytes 15 (PEA15), transcript variant 4
RC235669	Origene Technologies GmbH	10 µg	Ask for price

PEA15 (myc-DDK-tagged) - Human phosphoprotein enriched in astrocytes 15 (PEA15), transcript variant 3
RC235887	Origene Technologies GmbH	10 µg	Ask for price

PEA15 (myc-DDK-tagged) - Human phosphoprotein enriched in astrocytes 15 (PEA15), transcript variant 1
RC236085	Origene Technologies GmbH	10 µg	Ask for price

Lenti ORF clone of Pea15 (mGFP-tagged ORF) - Rat phosphoprotein enriched in astrocytes 15A (Pea15a), (10 ug)
RR204927L4	Origene Technologies GmbH	10 µg	Ask for price

Pea15a (Myc-DDK-tagged) - Mouse phosphoprotein enriched in astrocytes 15A (Pea15a), transcript variant 2
MR200734	Origene Technologies GmbH	10 µg	Ask for price

Lenti ORF clone of Pea15 (Myc-DDK-tagged ORF) - Rat phosphoprotein enriched in astrocytes 15A (Pea15a), (10 ug)
RR204927L3	Origene Technologies GmbH	10 µg	Ask for price

Lenti ORF particles, PEA15 (mGFP-tagged) - Human phosphoprotein enriched in astrocytes 15 (PEA15), 200ul, >10^7 TU/mL
RC205507L2V	Origene Technologies GmbH	200 µl	Ask for price

Lenti ORF particles, PEA15 (mGFP-tagged) - Human phosphoprotein enriched in astrocytes 15 (PEA15), 200ul, >10^7 TU/mL
RC205507L4V	Origene Technologies GmbH	200 µl	Ask for price

Brain Dissociation System 1 (Astrocytes, Glial, Cerebral cortices, Germinal matrix, Hippocampi, Neural), Mouse and Rat
4-20221	CHI Scientific	ea	Ask for price

Lenti ORF particles, PEA15 (Myc-DDK tagged) - Human phosphoprotein enriched in astrocytes 15 (PEA15), 200ul, >10^7 TU/mL
RC205507L1V	Origene Technologies GmbH	200 µl	Ask for price

Lenti ORF particles, PEA15 (Myc-DDK tagged) - Human phosphoprotein enriched in astrocytes 15 (PEA15), 200ul, >10^7 TU/mL
RC205507L3V	Origene Technologies GmbH	200 µl	Ask for price

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.