Stem Cell Research (Sep 2024)

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

  • Hongwei Zhang,
  • Tong Zhang,
  • Yaping Wang,
  • Jianguo Shi,
  • Yao Meng,
  • Qi Zhang,
  • Qingwei Guo,
  • Chunhong Duan

Journal volume & issue
Vol. 79
p. 103490

Abstract

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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.