ID   PFIZi014-A
AC   CVCL_IJ01
SY   OD002-s7
DR   BioSamples; SAMEA4454946
DR   EBiSC; PFIZi014-A
DR   ECACC; 66540375
DR   hPSCreg; PFIZi014-A
DR   SKIP; SKIP002864
DR   Wikidata; Q54947269
CC   From: Pfizer, Inc.; New York; USA.
CC   Sequence variation: Mutation; HGNC; HGNC:10585; SCN1A; Simple; p.Ala371Val (c.1112C>T); ClinVar=VCV000206759; Zygosity=Heterozygous (EBiSC=PFIZi014-A).
CC   Discontinued: ECACC; 66540375; true.
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   Male
AG   10-14Y
CA   Induced pluripotent stem cell
DT   Created: 01-12-16; Last updated: 19-12-24; Version: 15
//