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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 I 1 , Shiga T 2 , Chen C 1 , Oe Y 1 , Danzaki K 1 , Ohta S 1 Show all authors , Matsuoka R 1 , Anzai T 1 , Hibiya-Motegi R 1 , Tajima S 1 , Ikeda K 1 , Akamatsu W 2 , Kamiya K 3

Affiliations 

  • 1 Department of Otorhinolaryngology, Juntendo University Faculty of Medicine, Tokyo, Japan
  • 2 Center for Genomic and Regenerative Medicine, Juntendo University School of Medicine, Tokyo, Japan
  • 3 Department of Otorhinolaryngology, Juntendo University Faculty of Medicine, Tokyo, Japan. Electronic address: kkamiya@juntendo.ac.jp
Stem Cell Res, 2020 03;43:101674.
PMID: 31926383 DOI: 10.1016/j.scr.2019.101674

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.

* Title and MeSH Headings from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.

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