Generation of two induced pluripotent stem cell lines from an Usher syndrome type 1B patient with the homozygous c.496del MYO7A variant

Stem Cell Res. 2024 Sep:79:103492. doi: 10.1016/j.scr.2024.103492. Epub 2024 Jul 9.

Abstract

Usher syndrome (USH) is the most common cause of inherited deaf-blindness. Here, we produced the LEIi020-A and LEIi020-B induced pluripotent stem cell (iPSC) lines from dermal fibroblasts derived from a patient with USH1B caused by inheritance of homozygous c.496del variants in MYO7A using episomal plasmids encoding OCT4, SOX2, KLF4, L-MYC, LIN28, mir302/367 microRNA and shRNA for TP53. Both iPSC lines expressed pluripotency markers, demonstrated trilineage differentiation potential and displayed a 46,XY karyotype. These cell lines represent a valuable resource for the production of retinal and otic tissues to support research into the pathogenesis and treatment of USH1B.

MeSH terms

  • Cell Differentiation
  • Cell Line
  • Fibroblasts / metabolism
  • Homozygote*
  • Humans
  • Induced Pluripotent Stem Cells* / metabolism
  • Kruppel-Like Factor 4*
  • Male
  • Myosin VIIa*
  • Usher Syndromes* / genetics
  • Usher Syndromes* / pathology

Substances

  • Kruppel-Like Factor 4
  • Myosin VIIa
  • MYO7A protein, human
  • KLF4 protein, human