Establishment of an iPSC line (JTUi002-A) from a patient with Waardenburg syndrome caused by a SOX10 mutation and carrying a GJB2 mutation


Waardenburg syndrome (WS) is an inherited auditory-pigmentary syndrome characterized by deafness and pigment abnormalities. Here, we generated an induced pluripotent stem cell (iPSC) line using episomal plasmid vectors from the fibroblasts of an 8-year-old boy affected with WS, caused by a novel mutation in the SOX10 gene (NM_006941.3: c.937_947del; p.Tyr313Argfs*85), with a concurrent hotspot mutation in the GJB2 gene (NM_004004.5:c.235delC; p.Leu79Cysfs*3). The expression of pluripotency markers of the iPSC cell line was verified at both the mRNA and protein levels and the pluripotency state of the cell line was demonstrated by the capability to differentiate into all three germ layers. Copyright © 2020 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Wang P, Wang J, Xing Y, Wang H, Yu D, Feng Y, Wu H, Wu Y, Chen Z, Wang J, Shi H
Journal Stem cell research
Publication Date 2020 Apr;44:101756
PubMed 32199281
DOI 10.1016/j.scr.2020.101756

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