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


The gap junction beta-2 (GJB2) gene is the most common genetic cause of hereditary deafness worldwide. Especially, the 235delC mutation in GJB2 is 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 in GJB2-related deafness. Copyright © 2020 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Fukunaga I, Shirai K, Oe Y, Danzaki K, Ohta S, Shiga T, Chen C, Ikeda K, Akamatsu W, Kawano A, Kamiya K
Journal Stem cell research
Publication Date 2020 Jul 19;47:101910
PubMed 32745712
DOI 10.1016/j.scr.2020.101910

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