Establishment of human induced pluripotent stem cell line (SDQLCHi060-A) from a patient with AUTS2 syndrome carrying a heterozygous mutation in AUTS2 gene

Stem Cell Res. 2023 Dec:73:103242. doi: 10.1016/j.scr.2023.103242. Epub 2023 Nov 3.

Abstract

AUTS2 syndrome is a neurodevelopmental disorder caused by pathogenic variants and deletions of the AUTS2 gene, resulting in intellectual disability, microcephaly, and other phenotypes. Here, we generated a human induced pluripotent stem cell (iPSC) line from a 21-month-old boy with AUTS2 syndrome caused by a heterozygous mutation (c.1486C > T, p.Q496X) in the AUTS2 gene. The iPSCs had normal morphology and karyotype, expressed pluripotency markers, showed differentiation potential in vitro, and carried the AUTS2 gene mutation.

MeSH terms

  • Cell Differentiation
  • Cytoskeletal Proteins / genetics
  • Humans
  • Induced Pluripotent Stem Cells* / metabolism
  • Infant
  • Intellectual Disability* / genetics
  • Intellectual Disability* / metabolism
  • Male
  • Mutation / genetics
  • Neurodevelopmental Disorders*
  • Transcription Factors / genetics
  • Transcription Factors / metabolism

Substances

  • AUTS2 protein, human
  • Cytoskeletal Proteins
  • Transcription Factors