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
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
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从患有听力损失的纯合子患者和携带 GJB2 p.G45E/Y136X 突变的听力正常的杂合子携带者的兄弟姐妹中生成两个 iPSC 系
DOI：
10.1016/j.scr.2021.102290
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发表时间：
2021
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;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
缝隙连接β-2(GJB2)基因是全世界遗传性耳聋最常见的遗传原因。其中，GJB2的G45E/Y136X突变在日本居于第三位。在本研究中，我们从携带GJB2基因G45E/Y136X纯合子或杂合突变的中重度听力损失(患者)和听力正常的同胞(遗传携带者)的外周血单个核细胞(PBMC)中分别建立了两个诱导多能干细胞(IPSC)株。这些IPSC株系均有多能标记的表达，可分化为三个胚层。这些疾病特异性IPSC系将成为研究GJB2相关性耳聋发病机制的有力工具。
The gap junction beta-2 (GJB2) gene is the most common genetic cause of hereditary deafness worldwide. Among them, the G45E/Y136X mutation inGJB2is 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 homozygous or heterozygous G45E/Y136X mutation inGJB2gene, respectively. These iPSC lines showed the expression of pluripotency markers and could differentiate into three germ layers. These disease-specific iPSC lines will be a powerful tool for investigating the pathogenesis ofGJB2-related deafness.