Generation of a human induced pluripotent stem cell line carrying the TYR c.575C>A (p.Ser192Tyr) and c.1205G>A (p.Arg402Gln) variants in homozygous state using CRISPR-Cas9 genome editing

Stem Cell Res. 2022 Oct:64:102880. doi: 10.1016/j.scr.2022.102880. Epub 2022 Jul 30.

Abstract

TYR encodes tyrosinase, the enzyme catalysing the first steps of melanin biosynthesis in melanocytes and retinal pigment epithelia (RPE). The TYR c.575C>A (p.Ser192Tyr) [rs1042602] and c.1205G>A (p.Arg402Gln) [rs1126809] variants are prevalent genetic changes that have been associated with multiple pigmentation traits. Notably, individuals who are homozygous for these two missense variants are predisposed to having albinism. Here we used CRISPR-Cas9 technology to generate an induced pluripotent stem cell (iPSC) line (WTSIi253-A-2) that carries both c.575C>A and c.1205G>A in homozygous state. The line expresses pluripotency markers and exhibits multi-lineage differentiation potential, providing a useful in vitro model for investigating albinism pathogenesis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Albinism* / genetics
  • CRISPR-Cas Systems / genetics
  • Gene Editing
  • Humans
  • Induced Pluripotent Stem Cells* / metabolism
  • Melanins / genetics
  • Melanins / metabolism
  • Monophenol Monooxygenase / genetics
  • Monophenol Monooxygenase / metabolism
  • Retinal Pigments

Substances

  • Monophenol Monooxygenase
  • Melanins
  • Retinal Pigments