Generation of a human iPS cell line (CGMH.SLC26A4919-2) from a Pendred syndrome patient carrying SLC26A4 c.919-2A>G splice-site mutation


SLC26A4 is the second most frequent gene implicated in congenital hearing loss after GJB2 mutations. Here, we report the generation of induced pluripotent stem cells (iPSCs), from a patient who was carrying a homozygous c.919-2A>G variant in the SLC26A4 gene. This is the most common variant of SLC26A4 gene in the Chinese population and the second most prevalent one in other Asian countries. The established patient-derived iPSC displayed all the features of pluripotent stem cell markers and had the ability to differentiate into all of the three germ layers and possessed a normal karyotype. Copyright © 2019 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Cheng YF, Chan YH, Hu CJ, Lu YC, Saeki T, Hosoya M, Saegusa C, Fujioka M, Okano H, Weng SM, Hsu CJ, Chang KH, Wu CC
Journal Stem cell research
Publication Date 2019 Oct;40:101524
PubMed 31415960
DOI 10.1016/j.scr.2019.101524

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