TY - JOUR
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
N1 - Funding Information:
The authors thank the patient and the patient's parents for their cooperation in this study. We would also like to express our thanks for Ms. Yukari Sasaguri and the excellent technical assistance provided. This work was supported in part by Grants-in-Aid for Young Scientists (B) (26860833) to Y.T. and for Scientific Research (C) (26461552) to N.H. from the Japan Society for the Promotion of Science (JSPS) and the Program for Intractable Disease Research Utilizing Disease-specific iPS Cells funded by the Japan Agency for Medical Research and Development (A-MED) to H.O.; research grants were awarded from The Mother and Child Health Foundation to Y.T. and Kawano Masanori Memorial Public Interest Incorporated Foundation for Promotion of Pediatrics to N.H. This work was supported in part by a Grant-in-Aid for Scientific Research (A) (15H02548; S.H.); a Grant-in-Aid for Challenging Exploratory Research (25670481, 16K15532; S.H.); JSPS Bilateral Joint Research Projects (S.H.); Grants fo r Scientific Research on Innovative Areas (221S0002, 25129708; S.H.) from the Ministry of Education, Culture, Sports, Science, and Technology (MEXT); the MEXT-supported Program for the Strategic Research Foundation at Private Universities 2013–2017 (S.H.); a Practical Research Project for Rare/Intractable Diseases grant (15ek0109038a, 16ek0109038h) from the Japan Agency for Medical Research and Development; a Grant-in-Aid for Research on Measures for Intractable Diseases (H26-Nanji-Ippan-051 and 049, H29 Nanji-Ippan -010; S.H.) (H27- Nanji-Ippan -028; S.H.) Project for baby and infant in research of health and development to adolescent and young adult (16gk0110016h0001,17gk0110016h0002;S.H.) from the Ministry of Health, Labor, and Welfare; an Intramural Research Grant (24-7 and 27-5) for Neurological and Psychiatric Disorders from the National Center of Neurology and Psychiatry (S.H.); Japan-U.S. Brain Research Cooperation Program (S.H.); the Joint Usage/Research Program of the Medical Research Institute, Tokyo Medical and Dental University (S.H.).
Funding Information:
The authors thank the patient and the patient's parents for their cooperation in this study. We would also like to express our thanks for Ms. Yukari Sasaguri and the excellent technical assistance provided. This work was supported in part by Grants-in-Aid for Young Scientists (B) ( 26860833 ) to Y.T. and for Scientific Research (C) ( 26461552 ) to N.H. from the Japan Society for the Promotion of Science (JSPS) and the Program for Intractable Disease Research Utilizing Disease-specific iPS Cells funded by the Japan Agency for Medical Research and Development (A-MED) to H.O.; research grants were awarded from The Mother and Child Health Foundation to Y.T. and Kawano Masanori Memorial Public Interest Incorporated Foundation for Promotion of Pediatrics to N.H. This work was supported in part by a Grant-in-Aid for Scientific Research (A) ( 15H02548 ; S.H.); a Grant-in-Aid for Challenging Exploratory Research ( 25670481 , 16K15532 ; S.H.); JSPS Bilateral Joint Research Projects (S.H.); Grants fo r Scientific Research on Innovative Areas ( 221S0002 , 25129708 ; S.H.) from the Ministry of Education, Culture, Sports, Science, and Technology (MEXT) ; the MEXT-supported Program for the Strategic Research Foundation at Private Universities 2013–2017 (S.H.); a Practical Research Project for Rare/Intractable Diseases grant ( 15ek0109038a , 16ek0109038h ) from the Japan Agency for Medical Research and Development ; a Grant-in-Aid for Research on Measures for Intractable Diseases ( H26-Nanji-Ippan-051 and 049 , H29 Nanji-Ippan -010 ; S.H.) ( H27- Nanji-Ippan -028 ; S.H.) Project for baby and infant in research of health and development to adolescent and young adult ( 16gk0110016h0001 , 17gk0110016h0002 ;S.H.) from the Ministry of Health, Labor, and Welfare ; an Intramural Research Grant ( 24-7 and 27-5 ) for Neurological and Psychiatric Disorders from the National Center of Neurology and Psychiatry (S.H.); Japan-U.S. Brain Research Cooperation Program (S.H.); the Joint Usage/Research Program of the Medical Research Institute, Tokyo Medical and Dental University (S.H.).
Publisher Copyright:
© 2018
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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U2 - 10.1016/j.scr.2018.01.036
DO - 10.1016/j.scr.2018.01.036
M3 - Article
C2 - 29453127
AN - SCOPUS:85041924816
SN - 1873-5061
VL - 28
SP - 100
EP - 104
JO - Stem Cell Research
JF - Stem Cell Research
ER -