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

Stem cell research - 1 Aug 2018

Tanaka Yasuyoshi, Higurashi Norimichi, Shirasu Naoto, Yasunaga Shin'ichiro, Moreira Kevin Mello, Okano Hideyuki, Hirose Shinichi

Abstract excerpt

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...

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Identifiers

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

Genes

MYC
SOX2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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