Establishment of a transgene-free iPS cell line (SDCHi002-A) from a young patient bearing a NPRL3 mutation and suffering from Epilepsy

Stem Cell Res. 2024 Dec:81:103574. doi: 10.1016/j.scr.2024.103574. Epub 2024 Oct 11.

Abstract

Epilepsy affects ∼ 65 million people worldwide. In this study, peripheral blood mononuclear cells were isolated from a young patient patient bearing a Nitrogen Perntease Regulator Like 3 Protein (NPRL3) 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
  • Cell Line
  • Epilepsy* / genetics
  • Epilepsy* / pathology
  • Female
  • Humans
  • Induced Pluripotent Stem Cells* / cytology
  • Induced Pluripotent Stem Cells* / metabolism
  • Kruppel-Like Factor 4*
  • Male
  • Mutation*

Substances

  • Kruppel-Like Factor 4
  • KLF4 protein, human