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- W3035767407 abstract "Dravet syndrome is known as an intractable infantile epilepsy caused by a heterozygous de novo mutation in SCN1A, with mutations being reported globally. In this study, we established 2 human induced pluripotent stem cell lines by expressing reprogramming factors, OCT3/4, SOX2, KLF4, L-MYC, LIN28 and p53 shRNA in the fibroblast skin cells of a patient with Dravet syndrome harboring the Y1102X pathogenic mutation in SCN1A. These cell lines showed pluripotency, ability for differentiation to the 3 germ layers, and normal karyotype." @default.
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- W3035767407 date "2020-08-01" @default.
- W3035767407 modified "2023-10-16" @default.
- W3035767407 title "Establishment of human induced pluripotent stem cells derived from skin cells of a patient with Dravet syndrome" @default.
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- W3035767407 doi "https://doi.org/10.1016/j.scr.2020.101857" @default.
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