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Article

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

Stem cell research - 1 May 2020

Kamata Kazuma, Otsuka Yuki, Imamura Keiko, Oishi Akio, Kondo Takayuki, Suga Mika, Shibukawa Ran, Okanishi Yasue, Sagara Yukako, Tsukita Kayko, Yasukawa Tsutomu, Usui Hideaki, Muguruma Keiko, Tsujikawa Akitaka, Inoue Haruhisa

Abstract excerpt

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...

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Identifiers

PMID: 32416576
DOI: 10.1016/j.scr.2020.101782

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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