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 RP4, an mutation (E181K) occur in the RHO 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 cellular pathogenesis of RP and to screen chemical therapeutics.
| Specifications | |
|---|---|
| Organ System | Ocular System |
| Disease | Retinitis Pigmentosa (RP) |
| Target Gene | RHO |
| Gene Function | RHO encodes Rhodopsin found in rod cells in the back of the eye and is essential for vision in low-light conditions, it binds to 11-cis retinal and is activated when light hits the retinal molecule. Defects in this gene are a cause of congenital stationary night blindness. |
| Mutation | E181K (541G> A) |
| Phenotype | Pigmentation, arteriolar attenuation |
| Source | Skin fibroblasts |
| Cellular Assays | Whole-cell patch clamp techniques, immunostaining |
For Research Use Only. Not For Clinical Use.
