generation of d1-1 talen isogenic control cell line from dravet syndrome patient ipscs using talen-mediated editing of the scn1a gene

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ID: 169837
2018
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Abstract
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.
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tanaka2018stemgeneration Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors ;Yasuyoshi Tanaka;Takefumi Sone;Norimichi Higurashi;Tetsushi Sakuma;Sadafumi Suzuki;Mitsuru Ishikawa;Takashi Yamamoto;Jun Mitsui;Hitomi Tsuji;Hideyuki Okano;Shinichi Hirose
Journal journal of energy chemistry
Year 2018
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