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 has a deletion in 492C, occur in the MFRP gene. Generating pluripotent stem cells from skin 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 | MFRP |
| Gene Function | MFRP encodes a member of the frizzled-related protein family. The encoded protein plays an important role in eye development and mutations in this gene have been associated with nanophthalmos, posterior microphthalmia, retinitis pigmentosa, foveoschisis, and optic disc drusen. |
| Mutation | 492Cdel |
| Phenotype | Abnormal morphology with less pigment, mislocalized pigment distribution, and loss of clear cellular boundaries and cell-to-cell contact, as well as decreased overall pigmentation |
| Source | Skin fibroblasts |
| Cellular Assays | Whole-cell patch clamp techniques |
For Research Use Only. Not For Clinical Use.
