Establishment of a transgene-free iPS cell line (SDCHi007-A) from a young patient bearing a ATP1A2 mutation and suffering from Epilepsy

Stem Cell Res. 2024 Sep:79:103490. doi: 10.1016/j.scr.2024.103490. Epub 2024 Jul 9.

Abstract

Epilepsy is a chronic neurological disease. Here we describe the generation of induced pluripotent stem cells (iPSCs) from a patient diagnosed as epilepsy caused by ATP1A2 gene mutation. Induced pluripotent stem cells (iPSCs) were developed using non-integrating episomal vectors containing OCT4, SOX2, KLF4, BCL-XL and C-MYC. The established iPSC line (SDCHi007-A) displayed pluripotent cell morphology, high expression levels of pluripotency markers, differentiation potential in vitro, normal karyotype, and remaining the original ATP1A2 gene mutation.

MeSH terms

  • Cell Differentiation
  • Cell Line
  • Epilepsy* / genetics
  • Epilepsy* / pathology
  • Humans
  • Induced Pluripotent Stem Cells* / metabolism
  • Kruppel-Like Factor 4*
  • Male
  • Mutation*
  • Sodium-Potassium-Exchanging ATPase* / genetics
  • Sodium-Potassium-Exchanging ATPase* / metabolism

Substances

  • Kruppel-Like Factor 4
  • KLF4 protein, human
  • Sodium-Potassium-Exchanging ATPase