Article
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.
Stem cell research - 1 Mar 2021
Yang Xiaomeng, Liu Ning, Mu Hong, Lv Yuqiang, Zhang Haiyan, Li Yue, Guan Jingyun, Gai Zhongtao, Liu Yi
Abstract excerpt
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...
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