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Establishment of an iPSC line (CPGHi005-A) from a patient with Waardenburg syndrome carrying a heterozygous SVA-F retrotransposon insertion into SOX10.

Stem cell research - 1 Jul 2022

Li Xiaohong, Gao Xue, Huang Shasha, Han Mingyu, Kang Dongyang, Yang Jinyuan, Wu Xiedong, Zheng Qiuchen, Yuan Yongyi, Dai Pu, Wang Guojian

Abstract excerpt

Mutations of SOX10 result in Waardenburg syndrome characterized by sensorineural hearing loss and pigmentary abnormalities, which can be found in association with a defect of migrating neural crest cells. The role of SINE-VNTR-Alu (SVA) retrotransposon insertions in disorders has only been minimally explored and there have been no reports of WS cases related to SVA retrotransposons. Here, we report the successful...

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PMID: 35691110
DOI: 10.1016/j.scr.2022.102831

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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Establishment of an iPSC line (CPGHi005-A) from a patient with Waardenburg syndrome carrying a heterozygous SVA-F retrotransposon insertion into SOX10.PMID 35691110Read ↗

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