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J-GLOBAL ID：201902288226741354   Reference number：19A2528905

Generation of a human iPS cell line (CGMH.SLC26A4919-2) from a Pendred syndrome patient carrying SLC26A4 c.919-2A>G splice-site mutation

SLC26A4 c.919-2A>Gスプライス部位突然変異を持つPendred症候群患者からのヒトiPS細胞株(CGMH.SLC26A4919-2)の生成【JST・京大機械翻訳】

Author (18)： Cheng Yen-Fu (Department of Medical Research, Taipei Veterans General Hospital, Taipei, Taiwan) ,  Cheng Yen-Fu (Department of Otolaryngology-Head and Neck Surgery, Taipei Veterans General Hospital, Taipei, Taiwan) ,  Cheng Yen-Fu (School of Medicine, National Yang-Ming University, Taipei, Taiwan) ,  Cheng Yen-Fu (Department of Speech Language Pathology and Audiology, National Taipei University of Nursing Health Sciences, Taipei, Taiwan) ,  Chan Yen-Hui (Department of Otolaryngology, National Taiwan University Hospital, Taipei, Taiwan) ,  Chan Yen-Hui (Department of Otolaryngology, Taichung Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, Taichung, Taiwan) ,  Hu Chin-Ju (Department of Otolaryngology, National Taiwan University Hospital, Taipei, Taiwan) ,  Lu Ying-Chang (Department of Otolaryngology, National Taiwan University Hospital, Taipei, Taiwan) ,  Saeki Tsubasa (Department of Physiology, Keio University School of Medicine, Tokyo, Japan) ,  Hosoya Makoto (Department of Otorhinolaryngology, Keio University School of Medicine, Tokyo, Japan) ,  Saegusa Chika (Department of Otorhinolaryngology, Keio University School of Medicine, Tokyo, Japan) ,  Fujioka Masato (Department of Otorhinolaryngology, Keio University School of Medicine, Tokyo, Japan) ,  Okano Hideyuki (Department of Physiology, Keio University School of Medicine, Tokyo, Japan) ,  Weng Shih-Ming (Department of Speech Language Pathology and Audiology, National Taipei University of Nursing Health Sciences, Taipei, Taiwan) ,  Weng Shih-Ming (Department of Pediatrics, Wan Fang Hospital, Taipei Medical University, Taipei, Taiwan) ,  Hsu Chuan-Jen (Department of Otolaryngology, Taichung Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, Taichung, Taiwan) ,  Chang Kuo-Hsuan (Department of Neurology, Chang Gung Memorial Hospital and University School of Medicine, Taoyuan, Taiwan) ,  Wu Chen-Chi (Department of Otolaryngology, National Taiwan University Hospital, Taipei, Taiwan)
Material： Stem Cell Research (Web)  (Stem Cell Res (Web))
Volume： 40  Page： Null  Publication year： 2019 
JST Material Number： U7041A  ISSN： 1873-5061  Document type： Article
Article type： 短報  Country of issue： Netherlands (NLD)  Language： ENGLISH (EN)

Abstract/Point： SLC26A4 is the second most fre...

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Thesaurus term： *human(primates) ,  pluripotent stem cell ,  *variation(biology) ,  karyotype ,  *mutation ,  gene ,  Asia
Semi thesaurus term： 中国人 ,  同型接合性 ,  SLC26A4遺伝子 ,  先天性難聴 ,  *ヒトiPS細胞 ,  *Pendred症候群 ,  *スプライス部位 , 【Automatic Indexing@JST】

JST classification (2)： Development(=generation)and differentiation  (EJ16020W) ,  Cell physiology in general  (EF02010S)

Terms in the title (6)： スプライス部位 ,  突然変異 ,  Pendred症候群 ,  患者 ,  ヒトiPS細胞 ,  株