Generation of an iPSC line (SDQLCHi030-A) derived from PBMCs of a patient with Lesch-Nyhan syndrome caused by HPRT1 mutation

Stem Cell Res. 2024 Feb:74:103287. doi: 10.1016/j.scr.2023.103287. Epub 2023 Dec 16.

Abstract

Lesch-Nyhan syndrome (LNS, MIM300322) is a rare inherited disorder caused by mutations in HPRT1 gene. Here we describe the generation of induced pluripotent stem cells (iPSCs) from an infected child carrying the HPRT1 mutation c.508C > T(p.R170X) by reprogramming peripheral blood mononuclear cells (PBMCs) with episomal vectors. The obtained hiPSCs exhibited normal karyotype, expressed pluripotency markers, and possessed trilineage differentiation capacity.

MeSH terms

  • Cell Differentiation
  • Child
  • Humans
  • Hypoxanthine Phosphoribosyltransferase / genetics
  • Induced Pluripotent Stem Cells*
  • Lesch-Nyhan Syndrome* / genetics
  • Leukocytes, Mononuclear
  • Mutation / genetics
  • Peptide Initiation Factors / genetics

Substances

  • Hypoxanthine Phosphoribosyltransferase
  • Peptide Initiation Factors