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Establishment of an iPSC line (CSUXHi004-A) from a patient with Waardenburg syndrome type I caused by a PAX3 splice mutation.

Stem cell research - 1 May 2021

Wen Jie, He Chufeng, Feng Yong, Song Jian, Liu Jing, Liu Xianlin, Mei Lingyun, Ling Jie, Chen Hongsheng, Liu Yalan

Abstract excerpt

Waardenburg Syndrome (WS) is a common autosomal dominant syndrome associated with hearing loss. Its clinical manifestations include hearing impairment and pigmentation anomalies. In this study, we generated an induced pluripotent stem cell (iPSC) line from the Epstein-Barr virus-immortalized B lymphocytes of a 6-year-old boy affected with WS type I, caused by a heterozygous splice site mutation in the PAIRED BOX...

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Identifiers

PMID: 33774334
DOI: 10.1016/j.scr.2021.102300

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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