Generation of a human Ocular Albinism type 1 iPSC line, SEIi001-A, with a mutation in GPR143

生成人类眼白化病 1 型 iPSC 系 SEIi001-A,其中存在 GPR143 突变

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作者:Edouard Baulier, Alejandro Garcia Diaz, Barbara Corneo, Debora B Farber

Abstract

Ocular albinism type 1 is a genetic eye disease caused by mutations in the GPR143 gene. Little is known about the molecular pathways involved in this disease and no therapeutic candidate has been identified as yet. Here we report the generation of an iPSC line from the skin fibroblasts of a patient with a mutation in the GPR143 gene using Sendai Virus vectors. This new iPSC line will allow a better understanding of the Ocular Albinism type 1 disease and to screen for potential therapeutic candidates.

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