ID   FUi003-A1
AC   CVCL_ZW11
SY   D7-1
DR   SKIP; SKIP005773
DR   Wikidata; Q102113863
RX   PubMed=32599563;
CC   From: Central Research Institute for the Pathomechanisms of Epilepsy, Fukuoka University; Fukuoka; Japan.
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:10585; SCN1A; Simple; p.Tyr1102Ter (c.3306C>A); ClinVar=VCV000217243; Zygosity=Heterozygous (PubMed=32599563).
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)
HI   CVCL_A3YQ ! D2 [Human Dravet fibroblast]
SX   Female
AG   2Y
CA   Induced pluripotent stem cell
DT   Created: 29-10-20; Last updated: 19-12-24; Version: 8
//
RX   PubMed=32599563; DOI=10.1016/j.scr.2020.101857;
RA   Kimura Y., Tanaka Y., Shirasu N., Yasunaga S.-i., Higurashi N.,
RA   Hirose S.;
RT   "Establishment of human induced pluripotent stem cells derived from
RT   skin cells of a patient with Dravet syndrome.";
RL   Stem Cell Res. 47:101857-101857(2020).
//