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.

中文翻译：

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从Dravet综合征患者皮肤细胞衍生的人诱导多能干细胞的建立。

Dravet综合征是由SCN1A中的杂合性de novo突变引起的顽固性婴儿癫痫病，其突变在全球都有报道。在这项研究中，我们通过在具有Y1102X病原性突变的Dravet综合征患者的成纤维细胞皮肤细胞中表达重编程因子OCT3 / 4，SOX2，KLF4，L-MYC，LIN28和p53 shRNA ，建立了2种人类诱导的多能干细胞系在SCN1A中。这些细胞系显示出多能性，向3个胚层分化的能力以及正常的核型。