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

[摘要] 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 establishment and characterization of an iPSC line from a patient diagnosed with Waardenburg syndrome carrying an insertion of SVA in intron 2 of SOX10 .

[学科分类] 生理学