ID   DS-1-iPSC
AC   CVCL_A3ZB
DR   SKIP; SKIP003049
DR   Wikidata; Q105506772
RX   PubMed=29295803;
CC   Population: Korean.
CC   Sequence variation: Mutation; HGNC; HGNC:4976; HLCS; Simple; p.Gly261Valfs*20 (c.782delG); ClinVar=VCV000203777; Zygosity=Heterozygous (PubMed=29295803).
CC   Sequence variation: Mutation; HGNC; HGNC:10585; SCN1A; Simple; p.Gly1410Trp (c.4261G>T); Zygosity=Heterozygous (PubMed=29295803).
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)
SX   Female
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 19-12-24; Version: 7
//
RX   PubMed=29295803; DOI=10.1016/j.braindev.2017.12.002;
RA   Kim H.W., Quan Z.-J., Kim Y.-B., Cheong E., Kim H.D., Cho M.-J.,
RA   Jang J., Yoo Y.R., Lee J.S., Kim J.H., Kim Y.I., Kim D.-S.,
RA   Kang H.-C.;
RT   "Differential effects on sodium current impairments by distinct SCN1A
RT   mutations in GABAergic neurons derived from Dravet syndrome
RT   patients.";
RL   Brain Dev. 40:287-298(2018).
//