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

Stem Cell Res. 2022 Jul:62:102831. doi: 10.1016/j.scr.2022.102831. Epub 2022 Jun 7.

Abstract

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Heterozygote
  • Humans
  • Induced Pluripotent Stem Cells*
  • Mutation
  • Retroelements / genetics
  • SOXE Transcription Factors / genetics
  • Waardenburg Syndrome* / diagnosis
  • Waardenburg Syndrome* / genetics

Substances

  • Retroelements
  • SOX10 protein, human
  • SOXE Transcription Factors