Generation of two induced pluripotent stem cell lines from PBMCs of siblings carrying c.235delC mutation in the GJB2 gene associated with sensorineural hearing loss
Generation of two induced pluripotent stem cell lines from PBMCs of siblings carrying c.235delC mutation in the GJB2 gene associated with sensorineural hearing loss
复制标题
从携带与感音神经性听力损失相关的 GJB2 基因 c.235delC 突变的兄弟姐妹的 PBMC 中生成两种诱导多能干细胞系
DOI：
10.1016/j.scr.2020.101910
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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：
--
作者：
Fukunaga Ichiro;Shirai Kyoko;Oe Yoko;Danzaki Keiko;Ohta Sayaka;Shiga Takahiro;Chen Cheng;Ikeda Katsuhisa;Akamatsu Wado;Kawano Atsushi;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的235delC突变在东亚地区最为普遍。在这项研究中，我们从携带纯合235delC突变的同胞的PBMC产生了两个iPSC系，其表现出严重听力损失的听力表型。这些iPSC系具有正常核型，显示多能性标记的表达，并且可以分化成三个胚层。这些疾病特异性iPSC细胞系可能有助于疾病模型的构建和GJB2相关性耳聋发病机制的阐明。
The gap junction beta-2 (GJB2) gene is the most common genetic cause of hereditary deafness worldwide. Especially, the 235delC mutation inGJB2is most prevalent in East Asia. In this study, we generated two iPSC lines from PBMCs of siblings carrying homozygous 235delC mutation which exhibits an audiometric phenotype of profound hearing loss. These iPSC lines had normal karyotype, showed expression of pluripotency markers, and could differentiate into three germ layers. These disease specific iPSC lines may be useful for the construction of the disease models and for the elucidation of pathogenesis inGJB2-related deafness.