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Stem Cell Res. 2018 Aug;31:11-15. doi: 10.1016/j.scr.2018.06.008. Epub 2018 Jun 19.

Establishment of a human induced stem cell line (FUi002-A) from Dravet syndrome patient carrying heterozygous R1525X mutation in SCN1A gene.

Author information

1
Central Research Institute for the Molecular Pathomechanisms of Epilepsy, Fukuoka University, Japan.
2
Department of Pediatrics, Jikei University School of Medicine, Japan.
3
Department of Biochemistry, School of Medicine, Fukuoka University, Japan.
4
Department of Pediatrics, School of Medicine, Fukuoka University, Japan.
5
Department of Physiology, Keio University School of Medicine, Japan.
6
Central Research Institute for the Molecular Pathomechanisms of Epilepsy, Fukuoka University, Japan; Department of Pediatrics, School of Medicine, Fukuoka University, Japan. Electronic address: hirose@fukuoka-u.ac.jp.

Abstract

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.

PMID:
29981888
DOI:
10.1016/j.scr.2018.06.008
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