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Generation of the induced pluripotent stem cell (hiPSC) line (JUFMDOi004-A) from a patient with hearing loss carrying GJB2 (p.V37I) mutation.
Fukunaga, Ichiro; Shiga, Takahiro; Chen, Cheng; Oe, Yoko; Danzaki, Keiko; Ohta, Sayaka; Matsuoka, Rina; Anzai, Takashi; Hibiya-Motegi, Remi; Tajima, Shori; Ikeda, Katsuhisa; Akamatsu, Wado; Kamiya, Kazusaku.
Afiliação
  • Fukunaga I; Department of Otorhinolaryngology, Juntendo University Faculty of Medicine, Tokyo, Japan.
  • Shiga T; Center for Genomic and Regenerative Medicine, Juntendo University School of Medicine, Tokyo, Japan.
  • Chen C; Department of Otorhinolaryngology, Juntendo University Faculty of Medicine, Tokyo, Japan.
  • Oe Y; Department of Otorhinolaryngology, Juntendo University Faculty of Medicine, Tokyo, Japan.
  • Danzaki K; Department of Otorhinolaryngology, Juntendo University Faculty of Medicine, Tokyo, Japan.
  • Ohta S; Department of Otorhinolaryngology, Juntendo University Faculty of Medicine, Tokyo, Japan.
  • Matsuoka R; Department of Otorhinolaryngology, Juntendo University Faculty of Medicine, Tokyo, Japan.
  • Anzai T; Department of Otorhinolaryngology, Juntendo University Faculty of Medicine, Tokyo, Japan.
  • Hibiya-Motegi R; Department of Otorhinolaryngology, Juntendo University Faculty of Medicine, Tokyo, Japan.
  • Tajima S; Department of Otorhinolaryngology, Juntendo University Faculty of Medicine, Tokyo, Japan.
  • Ikeda K; Department of Otorhinolaryngology, Juntendo University Faculty of Medicine, Tokyo, Japan.
  • Akamatsu W; Center for Genomic and Regenerative Medicine, Juntendo University School of Medicine, Tokyo, Japan.
  • Kamiya K; Department of Otorhinolaryngology, Juntendo University Faculty of Medicine, Tokyo, Japan. Electronic address: kkamiya@juntendo.ac.jp.
Stem Cell Res ; 43: 101674, 2020 03.
Article em En | MEDLINE | ID: mdl-31926383
ABSTRACT
The gap junction beta-2 (GJB2) gene is the most common genetic cause of hereditary deafness worldwide. Especially, V37I mutation in GJB2 is most prevalent in Southeast Asia including Thailand, Malaysia, and Indonesia. Furthermore, it is the second most prevalent cause in Japan and China, and exhibits an audiometric phenotype of mild-to-moderate hearing loss. In this study, we generated induced pluripotent stem cells (iPSC) from peripheral blood mononuclear cells (PBMCs) of patient with homozygous V37I mutation. This iPSC line will be a powerful tool for investigating the pathogenesis and for developing a treatment for GJB2-related hearing loss.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Conexinas / Células-Tronco Pluripotentes Induzidas / Perda Auditiva Limite: Child / Female / Humans Idioma: En Revista: Stem Cell Res Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Japão
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Conexinas / Células-Tronco Pluripotentes Induzidas / Perda Auditiva Limite: Child / Female / Humans Idioma: En Revista: Stem Cell Res Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Japão