Generation of corrected-hiPSC (USTCi001-A-1) from epilepsy patient iPSCs using TALEN-mediated editing of the SCN1A gene
Generation of corrected-hiPSC (USTCi001-A-1) from epilepsy patient iPSCs using TALEN-mediated editing of the SCN1A gene
复制标题
使用 TALEN 介导的 SCN1A 基因编辑从癫痫患者 iPSC 生成校正 hiPSC (USTCi001-A-1)
DOI：
10.1016/j.scr.2020.101864
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发表时间：
2020
影响因子：
1.2
通讯作者：
Zhiyuan Li
中科院分区：
文献类型：
--
作者：
Huifang Zhao;Lang He;Shuai Li;Hualin Huang;Feng Tang;Xiaobo Han;Zuoxian Lin;Chao Tian;Rongqi Huang;Peng Zhou;Jufang Huang;Sihao Deng;Zhiyuan Li
Dravet综合征是一种神经系统疾病，其特征是治疗抵抗性多态性癫痫发作，主要由SCN 1A基因功能丧失引起。为了开发这种疾病的体外模型，在先前的研究中，我们从一名携带SCN 1A中NM_001165963. 1：c.5768A至G（Q1923R）突变的10岁男孩中产生了诱导多能干细胞系。使用TALEN介导的基因组编辑，我们现在已经产生了一个同基因对照系，其中在癫痫患者iPSC中发现的致病突变得到了纠正，以便在未来的分析中消除不同遗传背景的干扰。
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.