Establishment of an iPSC line (CSUXHi003-A) from a patient with Waardenburg syndrome type Ⅱ caused by a MITF mutation


Waardenburg syndrome (WS) is a genetic disorder characterized by sensorineural deafness. It has a variable presentation of pigmentation defects. Here, we generated an induced pluripotent stem cell (iPSC) line using episomal plasmid vectors from the fibroblasts of a 4-year-old boy affected with WS type II, caused by a novel mutation in microphthalmia-associated transcription factor (MITF) (NM_000248.3: exon6:c.626A>T). The patient-specific iPSC line (CSUXHi003-A) carrying the same MITF mutation showed normal karyotype, expressed pluripotent markers, and presented differentiation capacity in vitro. It may be a useful tool for in vitro modeling of WS. Copyright © 2021 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Wen J, Song J, He C, Ling J, Liu Y, Chen H, Gong W, Mei L, Feng Y
Journal Stem cell research
Publication Date 2021 Mar;51:102157
PubMed 33454628
DOI 10.1016/j.scr.2021.102157

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