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

Autor: Song Su, Ying Ren, Hongwei Zhang, Yi Liu, Yong Liu, Zilong Li, Tong Zhang, Fang Fang
Jazyk: angličtina
Rok vydání: 2024
Předmět:
Zdroj: Stem Cell Research, Vol 81, Iss , Pp 103574- (2024)
Druh dokumentu: article
ISSN: 1873-5061
DOI: 10.1016/j.scr.2024.103574
Popis: 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.
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