ID   FUi001-A
AC   CVCL_T891
SY   D1-6
DR   SKIP; SKIP000234
DR   SKIP; SKIP003130
DR   Wikidata; Q54817158
RX   PubMed=23639079;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; 10585; SCN1A; Simple; p.Arg1645Ter (c.4933C>T); ClinVar=VCV000189921; Zygosity=Heterozygous (PubMed=23639079).
CC   Discontinued: SKIP; SKIP000234; probable.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C147071; Developmental and epileptic encephalopathy 6A
DI   ORDO; Orphanet_33069; Dravet syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_T890 ! FUi001-B
SX   Female
AG   29Y
CA   Induced pluripotent stem cell
DT   Created: 03-02-14; Last updated: 05-10-23; Version: 15
//
RX   PubMed=23639079; DOI=10.1186/1756-6606-6-19;
RA   Higurashi N., Uchida T., Lossin C., Misumi Y., Okada Y., Akamatsu W.,
RA   Imaizumi Y., Zhang B., Nabeshima K., Mori M.X., Katsurabayashi S.,
RA   Shirasaka Y., Okano H., Hirose S.;
RT   "A human Dravet syndrome model from patient induced pluripotent stem
RT   cells.";
RL   Mol. Brain 6:19.1-19.12(2013).
//