Generation of XPA p.Arg228T mutant LUMCi004-A cell line for modeling Xeroderma pigmentosum group A

Stem Cell Res. 2024 Dec:81:103564. doi: 10.1016/j.scr.2024.103564. Epub 2024 Sep 20.

Abstract

Xeroderma pigmentosum group A (XPA) is an inherited skin disorder characterized by sensitivity to ultraviolet radiation. In Maghrebi patients, a homozygous mutation in exon 6 of the XPA gene (c.682C>T) results in the introduction of a premature termination codon. Using CRISPR/Cas9-mediated gene editing, this mutation was introduced into the well-characterized LUMCi004-A line. The resulting hiPSC line showed typical morphology, expressed markers of the undifferentiated state, was able to differentiate into the three germ layers in vitro and displayed a normal karyotype. When paired with its isogenic counterpart, this line represents a valuable resource to model the disease.

MeSH terms

  • Cell Line
  • Humans
  • Induced Pluripotent Stem Cells / metabolism
  • Mutation
  • Xeroderma Pigmentosum Group A Protein* / genetics
  • Xeroderma Pigmentosum Group A Protein* / metabolism
  • Xeroderma Pigmentosum* / genetics
  • Xeroderma Pigmentosum* / pathology

Substances

  • Xeroderma Pigmentosum Group A Protein
  • XPA protein, human