Establishment of an induced pluripotent stem cell (iPSC) line from a 7-year-old male patient with profound hearing loss carrying c.235delC in GJB2 gene


Gap junction protein beta 2 gene (GJB2) mutations are the most frequent cause of hereditary hearing impairment. The recessive c.235delC mutation in the GJB2 gene is the most common mutation causing severe to profound sensorineural hearing loss in the Asian population. The induced pluripotent stem cell (iPSC) line was generated using the integration-free Sendai virus method from peripheral blood mononuclear cells (PBMCs) of a hearing-impaired patient with homozygous GJB2 c.235delC mutation. This cell line may serve as a cellular model for studying the pathogenic mechanisms of deafness caused by GJB2 mutations. Copyright © 2020 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Huang CY, Tsai YH, Tsai YC, Lu YC, Chan YH, Hsu CJ, Chiou SH, Wu CC, Cheng YF
Journal Stem cell research
Publication Date 2020 May;45:101795
PubMed 32388442
DOI 10.1016/j.scr.2020.101795

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