Article
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 - 1 Mar 2020
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
Abstract excerpt
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...
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