Dravet syndrome is a neurological disorder characterized by treatment-resistant polymorphic seizures, primarily caused by loss-of-function in the SCN1A gene. To develop an in vitro model of this disease, in a previously study we generated an induced pluripotent stem cell line from a 10-year-old boy carrying the NM_001165963.1:c.5768A to G (Q1923R) mutation in SCN1A. Using TALEN-mediated genome editing, we have now generated an isogenic control line in which the disease-causing mutation found in the epilepsy patient iPSCs was corrected, in order to eliminate the interference of different genetic backgrounds in future analyses.

Dravet 综合征是一种以难治性多态性癫痫为特征的神经系统疾病，主要由 SCN1A 基因功能丧失引起。为了开发这种疾病的体外模型，在之前的一项研究中，我们从一名 10 岁男孩身上产生了一种诱导多能干细胞系，该男孩在 SCN1A 中携带 NM_001165963.1:c.5768A 至 G (Q1923R) 突变。使用 TALEN 介导的基因组编辑，我们现在生成了一个等基因对照系，其中纠正了癫痫患者 iPSC 中发现的致病突变，以消除未来分析中不同遗传背景的干扰。