从一名携带 GJB2 基因 p.G45E/Y136X 突变的纯合耳聋患者及其携带杂合突变听力正常的同胞兄妹中生成了两个 iPSC 系。
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.
机构信息
Department of Otorhinolaryngology, Juntendo University Faculty of Medicine, Tokyo, Japan.
Center for Genomic and Regenerative Medicine, Juntendo University School of Medicine, Tokyo, Japan.
出版信息
Stem Cell Res. 2021 May;53:102290. doi: 10.1016/j.scr.2021.102290. Epub 2021 Mar 16.
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 homozygous or heterozygous G45E/Y136X mutation in GJB2 gene, 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 of GJB2-related deafness.
缝隙连接蛋白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 中的 G45E/Y136X 突变在日本最为常见，位列第三。在这项研究中，我们从携带 GJB2 基因纯合或杂合 G45E/Y136X 突变的中度至重度听力损失（患者）或正常听力（遗传携带者）的兄弟姐妹的外周血单核细胞（PBMC）中生成了两条诱导多能干细胞（iPSC）系。这些 iPSC 系表现出多能性标记物的表达，并能分化为三个胚层。这些疾病特异性的 iPSC 系将成为研究 GJB2 相关性耳聋发病机制的有力工具。
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