TY - JOUR
T1 - Establishment of a human induced stem cell line (FUi002-A) from Dravet syndrome patient carrying heterozygous R1525X mutation in SCN1A gene
AU - Tanaka, Yasuyoshi
AU - Higurashi, Norimichi
AU - Shirasu, Naoto
AU - Yasunaga, Shin'ichiro
AU - Moreira, Kevin Mello
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 the excellent technical assistance provided. This work was supported in part by Grants-in-Aid for Young Scientists (B) (26860833) to Y.T. and Early-Career Scientists ( 18 K15735 ) from the Japan Society for the Promotion of Science (JSPS) ; research grants were awarded from The Mother and Child Health Foundation ( 26-7 ) to Y.T. and Grant-in-Aid for Scientific Research (C) ( 18 K07802 ) to N.H. from the Japan Society for the Promotion of Science (JSPS) . 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, 16 K15532; S.H.); JSPS Bilateral Joint Research Projects (S.H.); Grants for 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 The Authors
PY - 2018/8
Y1 - 2018/8
N2 - De novo mutations in SCN1A are the most common cause of Dravet syndrome (DS), an infantile-onset epileptic encephalopathy. In this study, human induced pluripotent stem cell (hiPSC) line FUi002-A was generated from skin fibroblasts obtained from a clinically diagnosed 26-year-old male DS patient with the R1525X variant of the SCN1A gene. Skin fibroblasts were reprogrammed using OriP/EBNA-1 based episomal plasmids expressing reprogramming factors expressing OCT4, SOX2, KLF-4, L-MYC, LIN28, and p53 shRNA. The transgene-free FUi002-A showed pluripotency, three germ layer differentiation capacity in vitro, and a normal karyotype. The resulting hiPSCs were heterozygous for the mutation in the SCN1A gene.
AB - De novo mutations in SCN1A are the most common cause of Dravet syndrome (DS), an infantile-onset epileptic encephalopathy. In this study, human induced pluripotent stem cell (hiPSC) line FUi002-A was generated from skin fibroblasts obtained from a clinically diagnosed 26-year-old male DS patient with the R1525X variant of the SCN1A gene. Skin fibroblasts were reprogrammed using OriP/EBNA-1 based episomal plasmids expressing reprogramming factors expressing OCT4, SOX2, KLF-4, L-MYC, LIN28, and p53 shRNA. The transgene-free FUi002-A showed pluripotency, three germ layer differentiation capacity in vitro, and a normal karyotype. The resulting hiPSCs were heterozygous for the mutation in the SCN1A gene.
UR - http://www.scopus.com/inward/record.url?scp=85049490609&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85049490609&partnerID=8YFLogxK
U2 - 10.1016/j.scr.2018.06.008
DO - 10.1016/j.scr.2018.06.008
M3 - Article
C2 - 29981888
AN - SCOPUS:85049490609
SN - 1873-5061
VL - 31
SP - 11
EP - 15
JO - Stem Cell Research
JF - Stem Cell Research
ER -