Two induced pluripotent stem cell (iPSC) lines derived from patients affected by Waardenburg syndrome type 1 retain potential to activate neural crest markers


Waardenburg syndrome type 1 (WS1), a rare genetic disease characterized by pigmentation defects and mild craniofacial anomalies often associated with congenital deafness is caused by heterozygous mutations in the PAX3 gene (2q36.1). We have generated two induced pluripotent stem cell lines (PCli029-A and PCli031-A) from two patients from the same family both carrying the same heterozygous deletion in PAX3 exon 1 (c.-70_85 + 366del). These cells are pluripotent as they can differentiate into ectoderm, mesoderm and endoderm. They also can activate the early neural crest marker SNAI2. These cells will be useful for studying the human neural crest-derived pigment cells. Copyright © 2023 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Alkobtawi M, Pla P, Onteniente B, Seal S, Pingault V, Marlin S, Monsoro-Burq AH
Journal Stem cell research
Publication Date 2023 Jun;69:103074
PubMed 36989619
PubMed Central PMC10240564
DOI 10.1016/j.scr.2023.103074

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