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Article

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

Stem cell research - 1 Jun 2023

Alkobtawi Mansour, Pla Patrick, Onteniente Brigitte, Seal Subham, Pingault Véronique, Marlin Sandrine, Monsoro-Burq Anne H

Abstract excerpt

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...

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Identifiers

PMID: 36989619
DOI: 10.1016/j.scr.2023.103074
PMCID: PMC10240564

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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