Generation of Best disease-derived induced pluripotent stem cell line (FRIMOi006-A) carrying a novel dominant mutation in BEST1 gene

产生携带 BEST1 基因新型显性突变的 Best 疾病衍生诱导性多能干细胞系 (FRIMOi006-A)

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作者:Judit Domingo-Prim, Marina Riera, Víctor Abad-Morales, Sheila Ruiz-Nogales, Borja Corcostegui, Esther Pomares

Abstract

Best disease, also known as Best vitelliform macular dystrophy, is an autosomal dominant form of macular degeneration. Here, we have generated an induced pluripotent stem cell (iPSC) line derived from a Best disease patient carrying a new dominant mutation in the BEST1 gene. Skin fibroblasts were reprogrammed to iPSCs by the non-integrative Sendai-virus method. The iPSC line has been characterized preserving the BEST1 mutation, expressing the pluripotency markers and being capable to differentiate to endoderm, mesoderm and ectoderm in vitro.

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