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 X-linked forms of RP (XLRP), an nonsense mutation (R120X) occur in the RP2 gene. Generating pluripotent stem cells from dermal fibroblasts, then differentiate into RPE cells. This disease cell model provides a platform to explore disease cellular pathogenesis of RP and to screen chemical therapeutics.
| Specifications | |
|---|---|
| Organ System | Ocular System |
| Disease | Retinitis Pigmentosa (RP) |
| Target Gene | RP2 |
| Gene Function | RP2 protein has been implicated in protein trafficking in photoreceptors and other retinal cells, mutation in the RP2 gene resulting in severe X-linked RP. |
| Mutation | R120X (c.519C> T) |
| Phenotype | The nonsense mutation cause complete lack of RP2 protein. |
| Source | Fibroblast cells |
| Cellular Assays | Whole-cell patch clamp techniques |
For Research Use Only. Not For Clinical Use.
