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 RP1, an mutation (721Lfs722X) occur in the RP1 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 | RP1 |
| Gene Function | RP1 gene encodes a member of the doublecortin family, encoding protein as photoreceptor microtubule-associated protein and is required for correct stacking of outer segment disc. |
| Mutation | 721Lfs722X (c.2161 2162insC) |
| Phenotype | Pigmentation, arteriolar attenuation |
| Source | Fibroblast cells |
| Cellular Assays | Whole-cell patch clamp techniques, immunofluorescence staining |
For Research Use Only. Not For Clinical Use.
