Generation of a human induced pluripotent stem cell line, BRCi005-A, derived from a Best disease patient with BEST1 mutations

Summary

Best Disease is an inherited retinal dystrophy that results in progressive and irreversible central vision loss caused by mutations of BESTROPHIN1 (BEST1). We established human induced pluripotent stem cells (iPSCs) from a Best disease patient with mutations R218H and A357V in the BEST1 gene. The generated iPSCs showed pluripotency markers and three-germ layer differentiation ability in vitro. A genetic analysis revealed mutations of R218H and A357V in the iPSCs. This iPSC line will be useful for elucidating the pathomechanisms of and drug discovery for Best disease. Copyright © 2020 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Kamata K, Otsuka Y, Imamura K, Oishi A, Kondo T, Suga M, Shibukawa R, Okanishi Y, Sagara Y, Tsukita K, Yasukawa T, Usui H, Muguruma K, Tsujikawa A, Inoue H
Journal Stem cell research
Publication Date 2020 Apr 29;45:101782
PubMed 32416576
DOI 10.1016/j.scr.2020.101782

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