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Article

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

Stem cell research - 1 Mar 2021

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

Abstract excerpt

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:...

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Identifiers

PMID: 33454628
DOI: 10.1016/j.scr.2021.102157

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

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Establishment of an iPSC line (CSUXHi003-A) from a patient with Waardenburg syndrome type Ⅱ caused by a MITF mutation.PMID 33454628Read ↗

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