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-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. Copyright © 2021 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Yang X, Liu N, Mu H, Lv Y, Zhang H, Li Y, Guan J, Gai Z, Liu Y
Journal Stem cell research
Publication Date 2021 Mar;51:102188
PubMed 33517119
DOI 10.1016/j.scr.2021.102188

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