ID   PFIZi019-A
AC   CVCL_RF98
SY   BC145c6; RCi202
DR   BioSamples; SAMEA4458852
DR   EBiSC; PFIZi019-A
DR   ECACC; 66540420
DR   hPSCreg; PFIZi019-A
DR   Wikidata; Q54947274
CC   From: Pfizer, Inc.; New York; USA.
CC   Sequence variation: Mutation; HGNC; 10585; SCN1A; Simple; p.Tyr1508fs (c.4522delT); Zygosity=Heterozygous (EBiSC=PFIZi019-A).
CC   Discontinued: ECACC; 66540420; 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   5-9Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 30-01-24; Version: 12
//