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For Research Use Only. Not For Clinical Use.

STEMOD™ iPSC-derived Bestrophinopathy Disease Model (BEST1, L234P)(MoOS-WQ008)

Datasheet

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 (L234P) 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
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 L234P
Phenotype BEST1 mutation causes defective efflux of chloride ion, suggesting a role of BEST1 as a chloride channel affecting calcium signaling in RPE.
Source Skin fibroblasts
Cellular Assays Whole-cell patch clamp techniques, immunostaining
Target Gene
Gene ID 7439
Uniprot ID O76090

For Research Use Only. Not For Clinical Use.

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