Generation of corrected-hiPSC (USTCi001-A-1) from epilepsy patient iPSCs using TALEN-mediated editing of the SCN1A gene


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. Copyright © 2020 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Zhao H, He L, Li S, Huang H, Tang F, Han X, Lin Z, Tian C, Huang R, Zhou P, Huang J, Deng S, Li Z
Journal Stem cell research
Publication Date 2020 Jul;46:101864
PubMed 32544858
DOI 10.1016/j.scr.2020.101864

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