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J-GLOBAL ID：202002238873392899   Reference number：20A2011924

Generation of two induced pluripotent stem cell lines from PBMCs of siblings carrying c.235delC mutation in the GJB2 gene associated with sensorineural hearing loss

感音難聴と関連したGJB2遺伝子におけるc.235delC変異を有する同胞のPBMCからの2つの誘導多能性幹細胞系の生成【JST・京大機械翻訳】

Author (11)： Fukunaga Ichiro (Department of Otorhinolaryngology, Juntendo University, Faculty of Medicine, Tokyo, Japan) ,  Shirai Kyoko (Department of Otolaryngology, Head and Neck Surgery, Tokyo Medical University, Tokyo, Japan) ,  Oe Yoko (Department of Otorhinolaryngology, Juntendo University, Faculty of Medicine, Tokyo, Japan) ,  Danzaki Keiko (Department of Otorhinolaryngology, Juntendo University, Faculty of Medicine, Tokyo, Japan) ,  Ohta Sayaka (Department of Otorhinolaryngology, Juntendo University, Faculty of Medicine, Tokyo, Japan) ,  Shiga Takahiro (Center for Genomic and Regenerative Medicine, Juntendo University School of Medicine, Tokyo, Japan) ,  Chen Cheng (Department of Otorhinolaryngology, Juntendo University, Faculty of Medicine, Tokyo, Japan) ,  Ikeda Katsuhisa (Department of Otorhinolaryngology, Juntendo University, Faculty of Medicine, Tokyo, Japan) ,  Akamatsu Wado (Center for Genomic and Regenerative Medicine, Juntendo University School of Medicine, Tokyo, Japan) ,  Kawano Atsushi (Department of Otolaryngology, Head and Neck Surgery, Tokyo Medical University, Tokyo, Japan) ,  Kamiya Kazusaku (Department of Otorhinolaryngology, Juntendo University, Faculty of Medicine, Tokyo, Japan)
Material： Stem Cell Research (Web)  (Stem Cell Res (Web))
Volume： 47  Page： Null  Publication year： 2020 
JST Material Number： U7041A  ISSN： 1873-5061  Document type： Article
Article type： 短報  Country of issue： Netherlands (NLD)  Language： ENGLISH (EN)

Abstract/Point： The gap junction beta-2 (GJB2)...

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Thesaurus term： *Heredity ,  *gene ,  Phenotype ,  versatility ,  Audiometry ,  East Asia ,  Karyotype ,  gap junction ,  experimental disease ,  pathogenesis ,  *sensorineural hearing loss ,  *pluripotent stem cell ,  GJB2 ,  Cell Physiological Phenomena
Semi thesaurus term： 聴力損失 ,  遺伝性難聴 , 【Automatic Indexing@JST】

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

Terms in the title (7)： 感音難聴 ,  GJB2遺伝子 ,  変異 ,  同胞 ,  PBMC ,  誘導 ,  多能性幹細胞