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


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. Copyright © 2019 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Domingo-Prim J, Riera M, Abad-Morales V, Ruiz-Nogales S, Corcostegui B, Pomares E
Journal Stem cell research
Publication Date 2019 Oct;40:101570
PubMed 31518904
DOI 10.1016/j.scr.2019.101570

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