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

Abstract

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.

• Authors: Kazuma Kamata, Yuki Otsuka, Keiko Imamura, Akio Oishi, Takayuki Kondo, Mika Suga, Ran Shibukawa, Yasue Okanishi, Yukako Sagara, Kayko Tsukita, Tsutomu Yasukawa, Hideaki Usui, Keiko Muguruma, Akitaka Tsujikawa, Haruhisa Inoue
• Journal: Stem cell research (Stem Cell Res) Vol. 45 Pg. 101782 (May 2020) ISSN: 1876-7753 [Electronic] England
• PMID: 32416576 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2020 The Authors. Published by Elsevier B.V. All rights reserved.

Chemical References

• BEST1 protein, human
• Bestrophins

Topics

• Bestrophins (genetics)
• Cell Differentiation
• Humans
• Induced Pluripotent Stem Cells
• Mutation
• Vitelliform Macular Dystrophy