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

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

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 wit...

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Main Authors: Yasuyoshi Tanaka, Norimichi Higurashi, Naoto Shirasu, Shin'ichiro Yasunaga, Kevin Mello Moreira, Hideyuki Okano, Shinichi Hirose
Format: Article
Language:English
Published: Elsevier 2018-08-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506118301569
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spelling doaj-a0f2c7162ba54700b42cb8556ca356202020-11-24T22:36:04ZengElsevierStem Cell Research1873-50612018-08-01311115Establishment of a human induced stem cell line (FUi002-A) from Dravet syndrome patient carrying heterozygous R1525X mutation in SCN1A geneYasuyoshi Tanaka0Norimichi Higurashi1Naoto Shirasu2Shin'ichiro Yasunaga3Kevin Mello Moreira4Hideyuki Okano5Shinichi Hirose6Central Research Institute for the Molecular Pathomechanisms of Epilepsy, Fukuoka University, JapanDepartment of Pediatrics, Jikei University School of Medicine, JapanDepartment of Biochemistry, School of Medicine, Fukuoka University, JapanDepartment of Biochemistry, School of Medicine, Fukuoka University, JapanDepartment of Pediatrics, School of Medicine, Fukuoka University, JapanDepartment of Physiology, Keio University School of Medicine, JapanCentral Research Institute for the Molecular Pathomechanisms of Epilepsy, Fukuoka University, Japan; Department of Pediatrics, School of Medicine, Fukuoka University, Japan; Corresponding author at: Central Research Institute for the Molecular Pathomechanisms of Epilepsy, Fukuoka University, Japan.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.http://www.sciencedirect.com/science/article/pii/S1873506118301569
collection DOAJ
language English
format Article
sources DOAJ
author Yasuyoshi Tanaka
Norimichi Higurashi
Naoto Shirasu
Shin'ichiro Yasunaga
Kevin Mello Moreira
Hideyuki Okano
Shinichi Hirose
spellingShingle Yasuyoshi Tanaka
Norimichi Higurashi
Naoto Shirasu
Shin'ichiro Yasunaga
Kevin Mello Moreira
Hideyuki Okano
Shinichi Hirose
Establishment of a human induced stem cell line (FUi002-A) from Dravet syndrome patient carrying heterozygous R1525X mutation in SCN1A gene
Stem Cell Research
author_facet Yasuyoshi Tanaka
Norimichi Higurashi
Naoto Shirasu
Shin'ichiro Yasunaga
Kevin Mello Moreira
Hideyuki Okano
Shinichi Hirose
author_sort Yasuyoshi Tanaka
title Establishment of a human induced stem cell line (FUi002-A) from Dravet syndrome patient carrying heterozygous R1525X mutation in SCN1A gene
title_short Establishment of a human induced stem cell line (FUi002-A) from Dravet syndrome patient carrying heterozygous R1525X mutation in SCN1A gene
title_full Establishment of a human induced stem cell line (FUi002-A) from Dravet syndrome patient carrying heterozygous R1525X mutation in SCN1A gene
title_fullStr Establishment of a human induced stem cell line (FUi002-A) from Dravet syndrome patient carrying heterozygous R1525X mutation in SCN1A gene
title_full_unstemmed Establishment of a human induced stem cell line (FUi002-A) from Dravet syndrome patient carrying heterozygous R1525X mutation in SCN1A gene
title_sort establishment of a human induced stem cell line (fui002-a) from dravet syndrome patient carrying heterozygous r1525x mutation in scn1a gene
publisher Elsevier
series Stem Cell Research
issn 1873-5061
publishDate 2018-08-01
description 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.
url http://www.sciencedirect.com/science/article/pii/S1873506118301569
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