Generation of induced pluripotent stem cells from a patient with hearing loss carrying GJB2 p.V37I mutation


Recessive mutations in the GJB2 gene are the most common genetic cause of hearing loss in humans. By using the Sendai-virus delivery system, we generated induced pluripotent stem cells (iPSCs) from the peripheral blood mononuclear cells of a female patient with the p.V37I (c.109G > A) mutation, a GJB2 mutation highly prevalent in the Asian population. The resulting iPSCs had a normal karyotype. The iPSCs also showed pluripotency, as confirmed by immunofluorescence staining, and differentiated into the three germ layers in vivo. This cellular model will provide a useful platform for investigating the pathogenic mechanisms of deafness related to GJB2 mutations. Copyright © 2018 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Chan YH, Cheng YF, Chen YT, Huang CY, Lin CH, Hu CJ, Lu YC, Wu CC, Hsu CJ
Journal Stem cell research
Publication Date 2018 Dec;33:51-55
PubMed 30316039
DOI 10.1016/j.scr.2018.10.002

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