Establishment of an induced pluripotent stem cell line (ZZUPMCi001-A) derived from peripheral blood mononuclear cells in a patient with type 1 Waardenburg syndrome


Waardenburg syndrome type I (WS1) is a human autosomal dominant genetic disease characterized by sensorineural hearing loss, pigmentary abnormalities, and dystopia canthorum. In this study, we generated an induced pluripotent stem cell (iPSC) line using non-integrative Sendai viral reprogramming technology from the peripheral blood mononuclear cells (PBMCs) of a 29-year-old woman affected with WS1, caused by a heterozygous frameshift mutation in the PAX3 (NM_181459.4:c.123del). This iPSC line carrying the same mutation displays a nomal karyotype, expresses pluripotent markers, and shows differentiation capacity in vitro. Copyright © 2021 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Wang X, Zhang S, Hu S, Xu H, Zhang Q, Tang W
Journal Stem cell research
Publication Date 2021 Nov 25;57:102606
PubMed 34864221
DOI 10.1016/j.scr.2021.102606

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