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J-GLOBAL ID：202202262573063639   整理番号：22A0567696

新規L1CAMミスセンス変異を有する男性の誘導多能性幹細胞系(ZZUi033-A)の確立【JST・京大機械翻訳】

Establishment of induced pluripotent stem cell line (ZZUi033-A) of a male with a novel L1CAM missense mutation

著者 (38件)： Li Shaohua (Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, 450000 Zhengzhou, Henan, China) ,  Li Shaohua (Henan Key Laboratory of Cerebrovascular Diseases, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou 450000, Henan, China) ,  Li Shaohua (Academy of Medical Sciences, Zhengzhou University, Zhengzhou, China) ,  Li Shaohua (Academy of Medical Sciences of Zhengzhou University Translational Medicine Platform, Zhengzhou 450000, Henan, China) ,  Wang Yunchao (Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, 450000 Zhengzhou, Henan, China) ,  Wang Yunchao (Henan Key Laboratory of Cerebrovascular Diseases, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou 450000, Henan, China) ,  Sun Huifang (Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, 450000 Zhengzhou, Henan, China) ,  Sun Huifang (Henan Key Laboratory of Cerebrovascular Diseases, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou 450000, Henan, China) ,  Sun Huifang (Academy of Medical Sciences, Zhengzhou University, Zhengzhou, China) ,  Wang Zhuoya (Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, 450000 Zhengzhou, Henan, China) ,  Wang Zhuoya (Henan Key Laboratory of Cerebrovascular Diseases, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou 450000, Henan, China) ,  Zhang Qi (Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, 450000 Zhengzhou, Henan, China) ,  Zhang Qi (Henan Key Laboratory of Cerebrovascular Diseases, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou 450000, Henan, China) ,  Zhang Qi (Academy of Medical Sciences, Zhengzhou University, Zhengzhou, China) ,  Zhang Qi (Academy of Medical Sciences of Zhengzhou University Translational Medicine Platform, Zhengzhou 450000, Henan, China) ,  Wang Yanlin (Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, 450000 Zhengzhou, Henan, China) ,  Wang Yanlin (Henan Key Laboratory of Cerebrovascular Diseases, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou 450000, Henan, China) ,  Yang Jing (Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, 450000 Zhengzhou, Henan, China) ,  Yang Jing (Henan Key Laboratory of Cerebrovascular Diseases, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou 450000, Henan, China) ,  Shi Changhe (Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, 450000 Zhengzhou, Henan, China) ,  Shi Changhe (Henan Key Laboratory of Cerebrovascular Diseases, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou 450000, Henan, China) ,  Yuan Yanpeng (Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, 450000 Zhengzhou, Henan, China) ,  Yuan Yanpeng (Henan Key Laboratory of Cerebrovascular Diseases, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou 450000, Henan, China) ,  Wang Hao (Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, 450000 Zhengzhou, Henan, China) ,  Wang Hao (Henan Key Laboratory of Cerebrovascular Diseases, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou 450000, Henan, China) ,  Wang Hao (Academy of Medical Sciences, Zhengzhou University, Zhengzhou, China) ,  Wang Hao (Academy of Medical Sciences of Zhengzhou University Translational Medicine Platform, Zhengzhou 450000, Henan, China) ,  Wang Anran (Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, 450000 Zhengzhou, Henan, China) ,  Wang Anran (Henan Key Laboratory of Cerebrovascular Diseases, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou 450000, Henan, China) ,  Wang Anran (Academy of Medical Sciences, Zhengzhou University, Zhengzhou, China) ,  Hu Zhengwei (Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, 450000 Zhengzhou, Henan, China) ,  Hu Zhengwei (Henan Key Laboratory of Cerebrovascular Diseases, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou 450000, Henan, China) ,  Hu Zhengwei (Academy of Medical Sciences, Zhengzhou University, Zhengzhou, China) ,  Hu Zhengwei (Academy of Medical Sciences of Zhengzhou University Translational Medicine Platform, Zhengzhou 450000, Henan, China) ,  Li Zhuo (Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, 450000 Zhengzhou, Henan, China) ,  Li Zhuo (Henan Key Laboratory of Cerebrovascular Diseases, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou 450000, Henan, China) ,  Xu Yuming (Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, 450000 Zhengzhou, Henan, China) ,  Xu Yuming (Henan Key Laboratory of Cerebrovascular Diseases, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou 450000, Henan, China)
資料名： Stem Cell Research (Web)  (Stem Cell Research (Web))
巻： 59  ページ： Null  発行年： 2022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： L1細胞接着分子(L1CAM)は,ニューロン移動,軸索誘導およびシナプス形成を含む神経発達の様々な過程において必須である。L1CAM変異のHundredsは神経発達欠損に関与するが,正確な病因は明らかにされていない。ここでは,新しいL1CAMミスセンス変異(p.Ile219Val/c.655A>G)を有する6歳の患者から皮膚線維芽細胞を得て,これら線維芽細胞を非統合リプログラミング法により誘導多能性幹細胞(iPSC)に形質転換した。iPSC株は典型的なクローン形態を示し,正準多能性マーカーを発現し,正常核型でミスセンス変異を維持した。Copyright 2022 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： 線維芽細胞 ,  汎用性 ,  男性 ,  クローン ,  核型 ,  細胞接着分子 ,  *ミスセンス突然変異 ,  病因 ,  シナプス形成 ,  *多能性幹細胞
準シソーラス用語： リプログラミング ,  神経発生 ,  軸索誘導 ,  皮膚線維芽細胞 ,  神経細胞移動 , 【Automatic Indexing@JST】

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 (5件)： L1CAM ,  ミスセンス変異 ,  男性 ,  誘導 ,  多能性幹細胞