ID   FUi002-A
AC   CVCL_VM11
SY   D6-5; D6#5
DR   hPSCreg; FUi002-A
DR   SKIP; SKIP005529
DR   Wikidata; Q93557469
RX   PubMed=29981888;
CC   From: Central Research Institute for the Pathomechanisms of Epilepsy, Fukuoka University; Fukuoka; Japan.
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; 10585; SCN1A; Simple; p.Arg1525Ter (c.4573C>T); ClinVar=VCV000189911; Zygosity=Heterozygous (PubMed=29981888).
CC   Derived from sampling site: Skin. Cell type=Fibroblast.
DI   NCIt; C147071; Developmental and epileptic encephalopathy 6A
DI   ORDO; Orphanet_33069; Dravet syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens
SX   Male
AG   26Y
CA   Induced pluripotent stem cell
DT   Created: 07-09-18; Last updated: 23-06-22; Version: 8
//
RX   PubMed=29981888; DOI=10.1016/j.scr.2018.06.008;
RA   Tanaka Y., Higurashi N., Shirasu N., Yasunaga S., Moreira K.M.,
RA   Okano H., Hirose S.;
RT   "Establishment of a human induced stem cell line (FUi002-A) from
RT   Dravet syndrome patient carrying heterozygous R1525X mutation in SCN1A
RT   gene.";
RL   Stem Cell Res. 31:11-15(2018).
//