ID   PFIZi018-A
AC   CVCL_RF97
SY   BC143c8; RCi207
DR   BioSamples; SAMEA4458850
DR   EBiSC; PFIZi018-A
DR   ECACC; 66540419
DR   hPSCreg; PFIZi018-A
DR   Wikidata; Q54947273
CC   From: Pfizer, Inc.; New York; USA.
CC   Sequence variation: Mutation; HGNC; 10585; SCN1A; Simple; p.Arg1245Ter (c.3733C>T) (R1234*); ClinVar=VCV000167639; Zygosity=Heterozygous (EBiSC=PFIZi018-A).
CC   Discontinued: ECACC; 66540419; 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   10-14Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 30-01-24; Version: 12
//