ID   INSRMi004-A
AC   CVCL_WR04
SY   PC118_c7
DR   BioSamples; SAMEA5827958
DR   hPSCreg; INSRMi004-A
DR   Wikidata; Q94318186
CC   From: INSERM; Paris; France.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 10585; SCN1A; Simple; p.Arg865Ter (c.2593C>T); ClinVar=VCV000189844; Zygosity=Heterozygous (hPSCreg=INSRMi004-A).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C147071; Developmental and epileptic encephalopathy 6A
DI   ORDO; Orphanet_33069; Dravet syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   15-19Y
CA   Induced pluripotent stem cell
DT   Created: 05-07-19; Last updated: 29-06-23; Version: 9
//