将一名听力损失患者的人类外周血单核细胞（PBMC）重编程为诱导多能干细胞系（SDQLCHi035-A），该细胞系在GJB2基因中保持复合杂合变异。
Reprogramming of human peripheral blood mononuclear cell (PBMC) from a patient suffering from hearing loss into iPSC line (SDQLCHi035-A) maintaining compound heterozygous variations in GJB2 gene.
作者信息
Yang Xiaomeng, Liu Ning, Mu Hong, Lv Yuqiang, Zhang Haiyan, Li Yue, Guan Jingyun, Gai Zhongtao, Liu Yi
机构信息
Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China.
Otolaryngology Department, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China.
出版信息
Stem Cell Res. 2021 Mar;51:102188. doi: 10.1016/j.scr.2021.102188. Epub 2021 Jan 21.
Mutation in the gap junction beta-2 (GJB2) gene is a main cause of autosomal-recessive nonsyndromic hearing loss (ARNSHL). The c.235delC and c.299-300del mutations are more common mutations in Chinese Han deaf patients, in which the compound heterozygous mutations of these two sites cause severe-to-profound hearing loss in a significant percentage. We established an induced pluripotent stem cell (iPSC) line from a 2-year-old boy with hearing loss, caused by compound heterozygous mutations in GJB2 (c.235delC and c.299-300del). The iPSCs was verified based on pluripotency markers and demonstrated trilineage differentiation potential in vitro.
缝隙连接蛋白β-2（GJB2）基因突变是常染色体隐性非综合征性听力损失（ARNSHL）的主要病因。c.235delC和c.299-300del突变是中国汉族耳聋患者中较为常见的突变，这两个位点的复合杂合突变在相当比例的患者中会导致重度至极重度听力损失。我们从一名2岁听力损失男孩中建立了诱导多能干细胞（iPSC）系，该男孩的听力损失由GJB2基因的复合杂合突变（c.235delC和c.299-300del）引起。通过多能性标志物对该iPSC进行了验证，并在体外证明了其三系分化潜能。
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