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

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

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-...

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Bibliographic Details
Main Authors: Xiaomeng Yang, Ning Liu, Hong Mu, Yuqiang Lv, Haiyan Zhang, Yue Li, Jingyun Guan, Zhongtao Gai, Yi Liu
Format: Article
Language:English
Published: Elsevier 2021-03-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506121000349

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