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 | |
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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 |
For Research Use Only. Not For Clinical Use.