Article
Generation of two iPSC lines from siblings of a homozygous patient with hearing loss and a heterozygous carrier with normal hearing carrying p.G45E/Y136X mutation in GJB2.
Stem cell research - 1 May 2021
Fukunaga Ichiro, Oe Yoko, Danzaki Keiko, Ohta Sayaka, Chen Cheng, Iizumi Madoka, Shiga Takahiro, 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. Among them, the G45E/Y136X mutation in GJB2 is the third most prevalent in Japan. In this study, we generated two induced pluripotent stem cell (iPSC) lines from peripheral blood mononuclear cells (PBMCs) of siblings with moderate-to-severe hearing loss (patient) or normal hearing (genetic carrier) carrying a...
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