Best disease is an inherited degenerative disease of the human macula that results in progressive and irreversible central vision loss, resulting from gene BEST1. This disease cell model has a mutation (N296H) occur in the BEST1 gene. Generating pluripotent stem cells from dermal fibroblasts, then differentiate into RPE cells. This disease cell model is contributed to as a new platform for disease mechanism research.
Specifications | |
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Organ System | Ocular System |
Disease | Bestrophinopathy |
Target Gene | BEST1 |
Gene Function | BEST1 encodes for an integral membrane protein in the basolateral membrane of the RPE that functions both as a chloride channel and regulator of voltage-gated calciumchannels |
Mutation | N296H (1591A> C) |
Phenotype | RPE lack the ability to adequately process and dispose of shed photoreceptor outer segments (POS), resulting in the accumulation of subretinal fluid and autofluorescent waste products |
Source | Skin fibroblasts |
Cellular Assays | Whole-cell patch clamp techniques, immunostaining |
For Research Use Only. Not For Clinical Use.