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 RP9 , an mutation (H137L) occur in the RP9 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 | RP9 |
| Gene Function | RP9 encods proteinby bound and phosphorylated by the protooncogene PIM1 product, mutations in this gene result in autosomal dominant retinitis pigmentosa-9. |
| Mutation | H137L (c.401A> T) |
| Phenotype | Pigmentation, arteriolar attenuation |
| Source | Fibroblast cells |
| Cellular Assays | Whole-cell patch clamp techniques, immunostaining |
For Research Use Only. Not For Clinical Use.
