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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.
Stem Cell Research ( IF 0.8 ) Pub Date : 2019-12-04 , DOI: 10.1016/j.scr.2019.101674 Ichiro Fukunaga 1 , Takahiro Shiga 2 , Cheng Chen 1 , Yoko Oe 1 , Keiko Danzaki 1 , Sayaka Ohta 1 , Rina Matsuoka 1 , Takashi Anzai 1 , Remi Hibiya-Motegi 1 , Shori Tajima 1 , Katsuhisa Ikeda 1 , Wado Akamatsu 2 , Kazusaku Kamiya 1
更新日期：2019-12-04
Stem Cell Research ( IF 0.8 ) Pub Date : 2019-12-04 , DOI: 10.1016/j.scr.2019.101674 Ichiro Fukunaga 1 , Takahiro Shiga 2 , Cheng Chen 1 , Yoko Oe 1 , Keiko Danzaki 1 , Sayaka Ohta 1 , Rina Matsuoka 1 , Takashi Anzai 1 , Remi Hibiya-Motegi 1 , Shori Tajima 1 , Katsuhisa Ikeda 1 , Wado Akamatsu 2 , Kazusaku Kamiya 1
Affiliation
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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