文献

J-GLOBAL ID：202002259791665665   整理番号：20A1255599

BEST1変異を有する最良疾患患者由来のヒト誘導多能性幹細胞株,BRCI005-Aの生成【JST・京大機械翻訳】

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

著者 (27件)： Kamata Kazuma (iPSC-based Drug discovery and Development Team, RIKEN BioResource Research Center, Kyoto, Japan) ,  Otsuka Yuki (iPSC-based Drug discovery and Development Team, RIKEN BioResource Research Center, Kyoto, Japan) ,  Otsuka Yuki (Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan) ,  Otsuka Yuki (Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, Japan) ,  Imamura Keiko (iPSC-based Drug discovery and Development Team, RIKEN BioResource Research Center, Kyoto, Japan) ,  Imamura Keiko (Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, Japan) ,  Imamura Keiko (Medical-risk Avoidance based on iPS Cells Team, RIKEN Center for Advanced Intelligence Project (AIP), Kyoto, 606-8507, Japan) ,  Oishi Akio (Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan) ,  Kondo Takayuki (iPSC-based Drug discovery and Development Team, RIKEN BioResource Research Center, Kyoto, Japan) ,  Kondo Takayuki (Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, Japan) ,  Kondo Takayuki (Medical-risk Avoidance based on iPS Cells Team, RIKEN Center for Advanced Intelligence Project (AIP), Kyoto, 606-8507, Japan) ,  Suga Mika (iPSC-based Drug discovery and Development Team, RIKEN BioResource Research Center, Kyoto, Japan) ,  Suga Mika (Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, Japan) ,  Shibukawa Ran (iPSC-based Drug discovery and Development Team, RIKEN BioResource Research Center, Kyoto, Japan) ,  Shibukawa Ran (Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, Japan) ,  Okanishi Yasue (iPSC-based Drug discovery and Development Team, RIKEN BioResource Research Center, Kyoto, Japan) ,  Sagara Yukako (iPSC-based Drug discovery and Development Team, RIKEN BioResource Research Center, Kyoto, Japan) ,  Tsukita Kayko (iPSC-based Drug discovery and Development Team, RIKEN BioResource Research Center, Kyoto, Japan) ,  Tsukita Kayko (Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, Japan) ,  Yasukawa Tsutomu (Department of Ophthalmology and Visual Science, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan) ,  Usui Hideaki (Department of Ophthalmology and Visual Science, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan) ,  Muguruma Keiko (Laboratory for Cell Asymmetry, RIKEN Center for Developmental Biology, Kobe, 650-0047, Japan) ,  Muguruma Keiko (Department of iPS Cell Applied Medicine, Graduate School of Medicine, Kansai Medical University, Hirakata, 573-1010, Japan) ,  Tsujikawa Akitaka (Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan) ,  Inoue Haruhisa (iPSC-based Drug discovery and Development Team, RIKEN BioResource Research Center, Kyoto, Japan) ,  Inoue Haruhisa (Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan) ,  Inoue Haruhisa (Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, Japan)
資料名： Stem Cell Research (Web)  (Stem Cell Research (Web))
巻： 45  ページ： Null  発行年： 2020年 
JST資料番号： U7041A  ISSN： 1873-5061  資料種別： 逐次刊行物 (A)
記事区分： 短報  発行国： オランダ (NLD)  言語： 英語 (EN)

抄録/ポイント： 最良の疾患は遺伝性網膜ジストロフィーであり,BESTROPHIN1(Best1)の突然変異により引き起こされる進行性で不可逆的な中心視力損失をもたらす。著者らは,Best1遺伝子においてR218HとA357Vを突然変異させたBest病患者からヒト誘発多能性幹細胞(iPSC)を確立した。発生したiPSCは,in vitroで多能性マーカーと3-胚芽層分化能を示した。遺伝子解析は,iPSCにおけるR218HとA357Vの変異を明らかにした。このiPSC系統は,Best病に対する薬物発見の病理学的機構の解明に有用である。Copyright 2020 Elsevier B.V., Amsterdam. All rights reserved. Translated from English into Japanese by JST.【JST・京大機械翻訳】

シソーラス用語： 視力 ,  遺伝子 ,  突然変異 ,  ヒト ,  分化 ,  汎用性 ,  胚芽 ,  不可逆性 ,  in vitro実験 ,  *多能性幹細胞
準シソーラス用語： Best病 ,  遺伝性網膜ジストロフィー ,  遺伝子解析 , 【Automatic Indexing@JST】

分類 (3件)： 生物学的機能  (EB03040U) ,  発生と分化  (EJ16020W) ,  消化器の基礎医学  (GH01020E)

タイトルに関連する用語 (6件)： 変異 ,  疾患患者 ,  ヒト ,  誘導 ,  多能性幹細胞 ,  株