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

研究成果: Article

6 引用 (Scopus)

抜粋

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.

元の言語English
ページ(範囲)100-104
ページ数5
ジャーナルStem Cell Research
28
DOI
出版物ステータスPublished - 2018 4 1

ASJC Scopus subject areas

  • Developmental Biology
  • Cell Biology

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  • これを引用

    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, 28, 100-104. https://doi.org/10.1016/j.scr.2018.01.036