ID   PFIZi009-A
AC   CVCL_RG04
SY   RCi188
DR   BioSamples; SAMEA4085222
DR   EBiSC; PFIZi009-A
DR   ECACC; 66540164
DR   hPSCreg; PFIZi009-A
DR   Wikidata; Q54947261
CC   From: Pfizer, Inc.; New York; USA.
CC   Sequence variation: Mutation; HGNC; HGNC:10585; SCN1A; Simple; p.Thr105Ile (c.314C>T); ClinVar=VCV000206927; Zygosity=Heterozygous (EBiSC=PFIZi009-A).
CC   Discontinued: ECACC; 66540164; 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   Female
AG   25-29Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 19-12-24; Version: 13
//