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

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

Stem Cell Research (May 2020)

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

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

Affiliations

Kazuma Kamata: iPSC-based Drug discovery and Development Team, RIKEN BioResource Research Center, Kyoto, Japan
Yuki Otsuka: iPSC-based Drug discovery and Development Team, RIKEN BioResource Research Center, Kyoto, Japan; Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan; Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, Japan
Keiko Imamura: iPSC-based Drug discovery and Development Team, RIKEN BioResource Research Center, Kyoto, Japan; Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, Japan; Medical-risk Avoidance based on iPS Cells Team, RIKEN Center for Advanced Intelligence Project (AIP), Kyoto, 606-8507, Japan
Akio Oishi: Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan
Takayuki Kondo: iPSC-based Drug discovery and Development Team, RIKEN BioResource Research Center, Kyoto, Japan; Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, Japan; Medical-risk Avoidance based on iPS Cells Team, RIKEN Center for Advanced Intelligence Project (AIP), Kyoto, 606-8507, Japan
Mika Suga: iPSC-based Drug discovery and Development Team, RIKEN BioResource Research Center, Kyoto, Japan; Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, Japan
Ran Shibukawa: iPSC-based Drug discovery and Development Team, RIKEN BioResource Research Center, Kyoto, Japan; Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, Japan
Yasue Okanishi: iPSC-based Drug discovery and Development Team, RIKEN BioResource Research Center, Kyoto, Japan
Yukako Sagara: iPSC-based Drug discovery and Development Team, RIKEN BioResource Research Center, Kyoto, Japan
Kayko Tsukita: iPSC-based Drug discovery and Development Team, RIKEN BioResource Research Center, Kyoto, Japan; Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, Japan
Tsutomu Yasukawa: Department of Ophthalmology and Visual Science, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan
Hideaki Usui: Department of Ophthalmology and Visual Science, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan
Keiko Muguruma: Laboratory for Cell Asymmetry, RIKEN Center for Developmental Biology, Kobe, 650-0047, Japan; Department of iPS Cell Applied Medicine, Graduate School of Medicine, Kansai Medical University, Hirakata, 573-1010, Japan
Akitaka Tsujikawa: Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan
Haruhisa Inoue: iPSC-based Drug discovery and Development Team, RIKEN BioResource Research Center, Kyoto, Japan; Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan; Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, Japan; Corresponding author.

Journal volume & issue: Vol. 45

Abstract

Read online

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.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

About the journal