PRODUCTS

Online Inquiry

For Research Use Only. Not For Clinical Use.

STEMOD™ iPSC-derived RP Disease Model (PRPH2, W316G (c.946T> G))(MoOS-WQ011)

Datasheet

Retinitis pigmentosa (RP) is a heterogenous formof inherited retinal dystrophy and characterized by progressive loss of visual function due to photoreceptor cell dysfunction and degeneration. This disease cell model belongs to RP7 , an mutation (W316G) occur in the PRPH2 gene. Generating pluripotent stem cells from skin fibroblasts, then differentiate into retinal cells(rod photoreceptor cells). This disease cell model provides a platform to explore disease mechanisms in human genetic RP.

Specifications
Organ System Ocular System
Disease Retinitis Pigmentosa (RP)
Target Gene PRPH2
Gene Function Defects in PRPH2 gene are associated with both central and peripheral retinal degenerations. Some of the various phenotypically different disorders are autosomal dominant retinitis pigmentosa, progressive macular degeneration, macular dystrophy and retinitis pigmentosa digenic.
Mutation W316G (c.946T> G)
Phenotype Pigmentation, arteriolar attenuation
Source Fibroblast cells
Cellular Assays Whole-cell patch clamp techniques, immunostaining
Target Gene
Gene ID 5961
Uniprot ID P23942

For Research Use Only. Not For Clinical Use.

Related Products