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 RP38 , 2 nucleotides deletion (992 and 993) occur in the MERTK 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 | MERTK |
| Gene Function | MERTK gene is a member of the MER/AXL/TYRO3 receptor kinase family and encodes a transmembrane protein with two fibronectin type-III domains, two Ig-like C2-type (immunoglobulin-like) domains, and one tyrosine kinase domain. Mutations in this gene have been associated with disruption of the retinal pigment epithelium (RPE) phagocytosis pathway and onset of autosomal recessive retinitis pigmentosa (RP). |
| Mutation | c.992_993delCA (p.Ser331Cysfs*5) |
| Phenotype | Defective phagocytosis |
| Source | Skin fibroblasts |
| Cellular Assays | Whole-cell patch clamp techniques, immunofluorescence stainings |
For Research Use Only. Not For Clinical Use.
