ID   PFIZi015-A
AC   CVCL_IJ02
SY   OD003-s5
DR   BioSamples; SAMEA4454948
DR   EBiSC; PFIZi015-A
DR   ECACC; 66540376
DR   hPSCreg; PFIZi015-A
DR   SKIP; SKIP002865
DR   Wikidata; Q54947270
CC   From: Pfizer, Inc.; New York; USA.
CC   Sequence variation: Mutation; HGNC; 10585; SCN1A; Simple; p.Ser551Profs*6 (c.1650delC); Zygosity=Heterozygous (EBiSC=PFIZi015-A).
CC   Discontinued: ECACC; 66540376; 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   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 01-12-16; Last updated: 30-01-24; Version: 15
//