ID   PFIZi024-A
AC   CVCL_RG01
SY   B218c6
DR   BioSamples; SAMEA104236754
DR   EBiSC; PFIZi024-A
DR   ECACC; 66540609
DR   hPSCreg; PFIZi024-A
DR   Wikidata; Q54947279
CC   From: Pfizer, Inc.; New York; USA.
CC   Sequence variation: Mutation; HGNC; 4075; GABRA1; Simple; p.Arg147Gln (c.440G>A); ClinVar=VCV000807607; Zygosity=Heterozygous (hPSCreg=PFIZi024-A).
CC   Discontinued: ECACC; 66540609; true.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C142802; Developmental and epileptic encephalopathy 19
DI   ORDO; Orphanet_442835; Non-specific early-onset epileptic encephalopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   30-34Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 30-01-24; Version: 10
//