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

Yasuyoshi Tanaka; Takefumi Sone; Norimichi Higurashi; Tetsushi Sakuma; Sadafumi Suzuki; Mitsuru Ishikawa; Takashi Yamamoto; Jun Mitsui; Hitomi Tsuji; Hideyuki Okano; Shinichi Hirose

doi:10.1016/j.scr.2018.01.036

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

Stem Cell Res. 2018 Apr:28:100-104. doi: 10.1016/j.scr.2018.01.036. Epub 2018 Feb 2.

Authors

Affiliations

¹ Central Research Institute for the Molecular Pathomechanisms of Epilepsy, Fukuoka University, Japan.
² Department of Physiology, Keio University School of Medicine, Japan.
³ Department of Pediatrics, Jikei University School of Medicine, Japan.
⁴ Department of Mathematical and Life Sciences, Graduate School of Science, Hiroshima University, Japan.
⁵ Department of Neurology, The University of Tokyo Hospital, Japan.
⁶ Department of Neurology, The University of Tokyo Hospital, Japan; Medical Genome Center, The University of Tokyo Hospital, Japan.
⁷ Central Research Institute for the Molecular Pathomechanisms of Epilepsy, Fukuoka University, Japan; Department of Pediatrics, School of Medicine, Fukuoka University, Japan. Electronic address: [email protected].

PMID: 29453127
DOI: 10.1016/j.scr.2018.01.036

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 Na_v1.1. 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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adult
Base Sequence
Cell Culture Techniques / methods*
Cell Line
Epilepsies, Myoclonic / pathology*
Female
Gene Editing*
Humans
Induced Pluripotent Stem Cells
Microsatellite Repeats / genetics
Mycoplasma / isolation & purification
NAV1.1 Voltage-Gated Sodium Channel / genetics*
Transcription Activator-Like Effector Nucleases / metabolism*

Substances

NAV1.1 Voltage-Gated Sodium Channel
SCN1A protein, human
Transcription Activator-Like Effector Nucleases