Establishment of a transgene-free iPS cell line (SDCHi003-A) from a young patient bearing a NPRL2 mutation and suffering from Epilepsy

Stem Cell Res. 2024 Apr:76:103366. doi: 10.1016/j.scr.2024.103366. Epub 2024 Feb 28.

Abstract

Epilepsy affects ∼ 65 million people worldwide. Status epilepticus can lead to life-threatening if untreated. In this study, peripheral blood mononuclear cells were isolated from a young patient patient bearing a Nitrogen Perntease Regulator Like 2 Protein (NPRL2) mutation and suffering from Epilepsy verified by clinical and genetic diagnosis. Induced pluripotent stem cells (iPSCs) were established by a non-integrative method, using plasmids carrying OCT4, SOX2, KLF4, BCL-XL and C-MYC. The established iPSCs presented typical pluripotent cells morphology, normal karyotype, and potential to differentiate into three germ layers. Our approach offers a useful model to explore pathogenesis and therapy of Epilepsy.

MeSH terms

  • Cell Differentiation / genetics
  • Cell Line
  • Cellular Reprogramming
  • Epilepsy*
  • Humans
  • Induced Pluripotent Stem Cells* / metabolism
  • Kruppel-Like Factor 4
  • Leukocytes, Mononuclear / metabolism
  • Mutation / genetics
  • Tumor Suppressor Proteins / genetics

Substances

  • Kruppel-Like Factor 4
  • NPRL2 protein, human
  • Tumor Suppressor Proteins