ID   PFIZi029-A
AC   CVCL_VE77
SY   B222c4
DR   BioSamples; SAMEA104491453
DR   EBiSC; PFIZi029-A
DR   ECACC; 66540640
DR   hPSCreg; PFIZi029-A
DR   Wikidata; Q54947283
CC   From: Pfizer, Inc.; New York; USA.
CC   Sequence variation: Mutation; HGNC; HGNC:1917; CHD2; Simple; p.Arg1546Ter (c.4636C>T); ClinVar=VCV000423473; Zygosity=Heterozygous (EBiSC=PFIZi029-A).
CC   Discontinued: ECACC; 66540640; true.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C172100; Developmental and epileptic encephalopathy 94
DI   ORDO; Orphanet_1942; Epilepsy with myoclonic-atonic seizures
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   5-9Y
CA   Induced pluripotent stem cell
DT   Created: 14-05-18; Last updated: 10-04-25; Version: 11
//