Generation of the induced pluripotent stem cell (hiPSC) line (JUFMDOi004-A) from a patient with hearing loss carrying GJB2 (p.V37I) mutation
Generation of the induced pluripotent stem cell (hiPSC) line (JUFMDOi004-A) from a patient with hearing loss carrying GJB2 (p.V37I) mutation
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从携带 GJB2 (p.V37I) 突变的听力损失患者中产生诱导多能干细胞 (hiPSC) 系 (JUFMDOi004-A)
DOI：
10.1016/j.scr.2019.101674
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发表时间：
2020
影响因子：
1.2
通讯作者：
Kamiya Kazusaku
中科院分区：
文献类型：
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作者：
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
差距连接β 2（GJB2）基因是全世界遗传性耳聋最常见的遗传原因。特别是GJB 2中的V37 I突变在东南亚包括泰国、马来西亚和印度尼西亚最普遍。此外，它是日本和中国的第二大常见原因，表现出轻度至中度听力损失的听力测定表型。在这项研究中，我们产生了诱导多能干细胞（iPSC）从外周血单个核细胞（PBMC）的纯合子V37I突变的患者。这种iPSC细胞系将成为研究GJB 2相关听力损失的发病机制和开发治疗方法的有力工具。
The gap junction beta-2 (GJB2) gene is the most common genetic cause of hereditary deafness worldwide. Especially, V37I mutation inGJB2is 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 forGJB2-related hearing loss.