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

Research output: Contribution to journalArticle

3 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)100-104
Number of pages5
JournalStem Cell Research
Volume28
DOIs
Publication statusPublished - 2018 Apr 1

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Myoclonic Epilepsy
Induced Pluripotent Stem Cells
Cell Line
NAV1.1 Voltage-Gated Sodium Channel
Brain Diseases
Point Mutation
Genome
Pathology
Mutation
Transcription Activator-Like Effector Nucleases
Gene Editing
Research
Genes

ASJC Scopus subject areas

  • Developmental Biology
  • Cell Biology

Cite this

Generation of D1-1 TALEN isogenic control cell line from Dravet syndrome patient iPSCs using TALEN-mediated editing of the SCN1A gene. / Tanaka, Yasuyoshi; Sone, Takefumi; Higurashi, Norimichi; Sakuma, Tetsushi; Suzuki, Sadafumi; Ishikawa, Mitsuru; Yamamoto, Takashi; Mitsui, Jun; Tsuji, Hitomi; Okano, Hideyuki; Hirose, Shinichi.

In: Stem Cell Research, Vol. 28, 01.04.2018, p. 100-104.

Research output: Contribution to journalArticle

Tanaka, Y, Sone, T, Higurashi, N, Sakuma, T, Suzuki, S, Ishikawa, M, Yamamoto, T, Mitsui, J, Tsuji, H, Okano, H & Hirose, S 2018, 'Generation of D1-1 TALEN isogenic control cell line from Dravet syndrome patient iPSCs using TALEN-mediated editing of the SCN1A gene', Stem Cell Research, vol. 28, pp. 100-104. https://doi.org/10.1016/j.scr.2018.01.036
Tanaka, Yasuyoshi ; Sone, Takefumi ; Higurashi, Norimichi ; Sakuma, Tetsushi ; Suzuki, Sadafumi ; Ishikawa, Mitsuru ; Yamamoto, Takashi ; Mitsui, Jun ; Tsuji, Hitomi ; Okano, Hideyuki ; Hirose, Shinichi. / Generation of D1-1 TALEN isogenic control cell line from Dravet syndrome patient iPSCs using TALEN-mediated editing of the SCN1A gene. In: Stem Cell Research. 2018 ; Vol. 28. pp. 100-104.
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