Generation of an induced pluripotent stem cell (iPSC) line (EXSURGi001-A) from a patient homozygous for the p.Ala165Thr mutation in the MTARC1 gene

Stem Cell Res. 2024 Oct:80:103516. doi: 10.1016/j.scr.2024.103516. Epub 2024 Jul 30.

Abstract

Metabolic dysfunction-associated fatty liver disease (MAFLD), the leading cause of end-stage liver disease in developed countries, is expected to increase over the next decade. Characterized by hepatic steatosis, MAFLD is commonly studied in animal models. Here, we generated a human induced pluripotent stem cell (iPSC) line from a patient homozygous of the protective MTARC1 gene variant rs2642438:A. This line displays a normal karyotype and typical pluripotent stem cell morphology and can differentiate into all three germ layers in vitro.

MeSH terms

  • Cell Differentiation
  • Cell Line
  • Homozygote*
  • Humans
  • Induced Pluripotent Stem Cells* / metabolism
  • Male
  • Mutation