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

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

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...

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Bibliographic Details
Main Authors: Xiaohong Li, Xue Gao, Shasha Huang, Mingyu Han, Dongyang Kang, Jinyuan Yang, Xiedong Wu, Qiuchen Zheng, Yongyi Yuan, Pu Dai, Guojian Wang
Format: Article
Language:English
Published: Elsevier 2022-07-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506122001805

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http://www.sciencedirect.com/science/article/pii/S1873506122001805

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