Generation of D1-1 TALEN isogenic control cell line from Dravet syndrome patient iPSCs using TALEN-mediated editing of the SCN1A gene


Dravet syndrome (DS) is an infantile epileptic encephalopathy mainly caused by de novo mutations in the SCN1A gene encoding the α1 subunit of the voltage-gated sodium channel Nav1.1. As an in vitro model of this disease, we previously generated an induced pluripotent stem cell (iPSC) line from a patient with DS carrying a c.4933C>T (p.R1645*) substitution in SCN1A. Here, we describe developing a genome-edited control cell line from this DS iPSC line by substituting the point mutation with the wild-type residue. This artificial control iPSC line will be a powerful tool for research into the pathology of DS. Copyright © 2018 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Tanaka Y, Sone T, Higurashi N, Sakuma T, Suzuki S, Ishikawa M, Yamamoto T, Mitsui J, Tsuji H, Okano H, Hirose S
Journal Stem cell research
Publication Date 2018 Apr;28:100-104
PubMed 29453127
DOI 10.1016/j.scr.2018.01.036

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