Dravet syndrome is an epileptic encephalopathy largely due to haploinsufficiency of the voltage-gated sodium channel Nav1.1 that is expressed primarily in GABAergic neurons. In order to distinguish the different subtypes, we used gene editing to introduce tdTomato gene into the genome of iPSCs to label the GABAergic neurons in the differentiated neuronal networks. The gene-edited cell line demonstrates normal karyotype, expresses the main pluripotency markers, and shows the presence of differentiation into the three embryonic germ layers in teratomas.

中文翻译：

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使用 CRISPR/Cas9 编辑生成 tdTomato-GAD67 报告基因人类癫痫突变诱导的多能干细胞系 USTCi001-A-2

Dravet 综合征是一种癫痫性脑病，主要是由于主要在 GABA 能神经元中表达的电压门控钠通道 Nav1.1 的单倍体不足所致。为了区分不同的亚型，我们使用基因编辑将tdTomato基因引入iPSCs的基因组中，以标记分化的神经元网络中的GABA能神经元。基因编辑的细胞系表现出正常的核型，表达主要的多能性标记，并显示出在畸胎瘤中分化为三个胚胎胚层。