Generation of the induced pluripotent stem cell (hiPSC) line (JUFMDOi004-A) from a patient with hearing loss carrying GJB2 (p.V37I) mutation


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. Copyright © 2019. Published by Elsevier B.V.

Authors Fukunaga I, Shiga T, Chen C, Oe Y, Danzaki K, Ohta S, Matsuoka R, Anzai T, Hibiya-Motegi R, Tajima S, Ikeda K, Akamatsu W, Kamiya K
Journal Stem cell research
Publication Date 2020 Mar;43:101674
PubMed 31926383
DOI 10.1016/j.scr.2019.101674

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