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

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 journal › Article › peer-review

15 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 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.

Original language	English
Pages (from-to)	100-104
Number of pages	5
Journal	Stem Cell Research
Volume	28
DOIs	https://doi.org/10.1016/j.scr.2018.01.036
Publication status	Published - 04-2018
Externally published	Yes

All Science Journal Classification (ASJC) codes

Developmental Biology
Cell Biology

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10.1016/j.scr.2018.01.036

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

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.",

author = "Yasuyoshi Tanaka and Takefumi Sone and Norimichi Higurashi and Tetsushi Sakuma and Sadafumi Suzuki and Mitsuru Ishikawa and Takashi Yamamoto and Jun Mitsui and Hitomi Tsuji and Hideyuki Okano and Shinichi Hirose",

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doi = "10.1016/j.scr.2018.01.036",

language = "English",

volume = "28",

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T1 - Generation of D1-1 TALEN isogenic control cell line from Dravet syndrome patient iPSCs using TALEN-mediated editing of the SCN1A gene

AU - Tanaka, Yasuyoshi

AU - Sone, Takefumi

AU - Higurashi, Norimichi

AU - Sakuma, Tetsushi

AU - Suzuki, Sadafumi

AU - Ishikawa, Mitsuru

AU - Yamamoto, Takashi

AU - Mitsui, Jun

AU - Tsuji, Hitomi

AU - Okano, Hideyuki

AU - Hirose, Shinichi

PY - 2018/4

Y1 - 2018/4

N2 - 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.

AB - 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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DO - 10.1016/j.scr.2018.01.036

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AN - SCOPUS:85041924816

SN - 1873-5061

VL - 28

SP - 100

EP - 104

JO - Stem Cell Research

JF - Stem Cell Research

ER -

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

Abstract

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