ID   PFIZi031-A
AC   CVCL_VE79
SY   B213c1
DR   BioSamples; SAMEA104494773
DR   EBiSC; PFIZi031-A
DR   ECACC; 66540884
DR   hPSCreg; PFIZi031-A
DR   Wikidata; Q54947297
CC   From: Pfizer, Inc.; New York; USA.
CC   Sequence variation: Mutation; HGNC; 10588; SCN2A; Simple; p.Lys1422Glu (c.4264A>G); ClinVar=VCV000206999; Zygosity=Heterozygous (EBiSC=PFIZi031-A).
CC   Discontinued: ECACC; 66540884; true.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C172096; Developmental and epileptic encephalopathy 11
DI   ORDO; Orphanet_442835; Non-specific early-onset epileptic encephalopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   5-9Y
CA   Induced pluripotent stem cell
DT   Created: 14-05-18; Last updated: 30-01-24; Version: 10
//