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J-GLOBAL ID：201902251943005401   整理番号：19A2215704

STXBP1突然変異の若年患者の突然死に続く死後組織からの3つの誘導多能性幹細胞株の発生【JST・京大機械翻訳】

Generation of three induced pluripotent stem cell lines from postmortem tissue derived following sudden death of a young patient with STXBP1 mutation

著者 (15件)： Yamamoto Takuma (Division of Forensic Pathology and Science, Unit of Social Medicine, Course of Medical and Dental Sciences, Graduate School of Biomedical Sciences, Nagasaki University School of Medicine, 1-12-4 Sakamoto, Nagasaki 852-8523, Japan) ,  Otsu Makoto (Division of Stem Cell Processing/Stem Cell Bank, Center for Stem Cell Biology and Regenerative Medicine, The Institute of Medical Science, The University of Tokyo, 4-6-1 Shirokanedai, Minato-ku, Tokyo 108-8639, Japan) ,  Okumura Takashi (Division of Stem Cell Processing/Stem Cell Bank, Center for Stem Cell Biology and Regenerative Medicine, The Institute of Medical Science, The University of Tokyo, 4-6-1 Shirokanedai, Minato-ku, Tokyo 108-8639, Japan) ,  Horie Yumi (Division of Stem Cell Processing/Stem Cell Bank, Center for Stem Cell Biology and Regenerative Medicine, The Institute of Medical Science, The University of Tokyo, 4-6-1 Shirokanedai, Minato-ku, Tokyo 108-8639, Japan) ,  Ueno Yasuharu (Division of Regenerative Medicine, Center for Stem Cell Biology and Regenerative Medicine, The Institute of Medical Science, The University of Tokyo, 4-6-1 Shirokanedai, Minato-ku, Tokyo 108-8639, Japan) ,  Taniguchi Hideki (Division of Stem Cell Processing/Stem Cell Bank, Center for Stem Cell Biology and Regenerative Medicine, The Institute of Medical Science, The University of Tokyo, 4-6-1 Shirokanedai, Minato-ku, Tokyo 108-8639, Japan) ,  Taniguchi Hideki (Division of Regenerative Medicine, Center for Stem Cell Biology and Regenerative Medicine, The Institute of Medical Science, The University of Tokyo, 4-6-1 Shirokanedai, Minato-ku, Tokyo 108-8639, Japan) ,  Ohtaka Manami (Biotechnology Research Institute for Drug Discovery, National Institute of Advanced Industrial Science and Technology (AIST), 1-1-1 Higashi, Tsukuba, Ibaraki 305-8565, Japan) ,  Ohtaka Manami (TOKIWA-Bio Inc., G-4 Tsukuba-TCI, 2-1-6 Sengen, Tsukuba, Ibaraki 305-0047, Japan) ,  Nakanishi Mahito (Biotechnology Research Institute for Drug Discovery, National Institute of Advanced Industrial Science and Technology (AIST), 1-1-1 Higashi, Tsukuba, Ibaraki 305-8565, Japan) ,  Nakanishi Mahito (TOKIWA-Bio Inc., G-4 Tsukuba-TCI, 2-1-6 Sengen, Tsukuba, Ibaraki 305-0047, Japan) ,  Abe Yuki (Division of Forensic Pathology and Science, Unit of Social Medicine, Course of Medical and Dental Sciences, Graduate School of Biomedical Sciences, Nagasaki University School of Medicine, 1-12-4 Sakamoto, Nagasaki 852-8523, Japan) ,  Murase Takehiko (Division of Forensic Pathology and Science, Unit of Social Medicine, Course of Medical and Dental Sciences, Graduate School of Biomedical Sciences, Nagasaki University School of Medicine, 1-12-4 Sakamoto, Nagasaki 852-8523, Japan) ,  Umehara Takahiro (Division of Forensic Pathology and Science, Unit of Social Medicine, Course of Medical and Dental Sciences, Graduate School of Biomedical Sciences, Nagasaki University School of Medicine, 1-12-4 Sakamoto, Nagasaki 852-8523, Japan) ,  Ikematsu Kazuya (Division of Forensic Pathology and Science, Unit of Social Medicine, Course of Medical and Dental Sciences, Graduate School of Biomedical Sciences, Nagasaki University School of Medicine, 1-12-4 Sakamoto, Nagasaki 852-8523, Japan)
資料名： Stem Cell Research (Web)  (Stem Cell Research (Web))
巻： 39  ページ： Null  発行年： 2019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： 著者らは,R551H変異体STXBP1遺伝子を有することが判明したLennox-Gastaut症候群を有する8歳の少女の突然の予想外の死に従って誘導された後培養線維芽細胞から3つのiPSC系統を確立した。これらのiPSCクローンは,遺伝子型を保持し,三系統分化能力を示す一方,多能性特性を示し,疾患モデリング研究,すなわちSTXBP1-脳症におけるそれらの有用性を示した。これは突然死の子供からのiPSCの確立に関する最初の報告であり,突然死の原因の正確な同定のための画期的なアプローチとしてのポストモルテーム-iPSC技術の使用の可能性を示唆している。Copyright 2019 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： *突然変異 ,  *急死 ,  分化 ,  脳疾患 ,  *ヒト ,  線維芽細胞 ,  子供 ,  クローン ,  *多能性幹細胞 ,  モデリング ,  遺伝子型 ,  培養 ,  *汎用性 ,  遺伝子 ,  *死 ,  少女

分類 (2件)： 発生と分化  (EJ16020W) ,  細胞生理一般  (EF02010S)

タイトルに関連する用語 (7件)： 突然変異 ,  若年患者 ,  突然死 ,  組織 ,  誘導 ,  多能性幹細胞 ,  株