Establishment of a transgene-free iPS cell line (SDCHi002-A) from a young patient bearing a NPRL3 mutation and suffering from Epilepsy
Summary
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. Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Su S, Ren Y, Zhang H, Liu Y, Liu Y, Li Z, Zhang T, Fang F |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2024 Dec;81:103574 |
| PubMed | 39426047 |
| DOI | 10.1016/j.scr.2024.103574 |