ID   PFIZi028-A
AC   CVCL_VE76
SY   B212c7
DR   BioSamples; SAMEA104491452
DR   EBiSC; PFIZi028-A
DR   ECACC; 66540639
DR   hPSCreg; PFIZi028-A
DR   Wikidata; Q54947282
CC   From: Pfizer, Inc.; New York; USA.
CC   Sequence variation: Mutation; HGNC; 29521; C12orf57; Simple; p.Gln62Ter (c.184C>T); ClinVar=VCV000155861; Zygosity=Heterozygous (hPSCreg=PFIZi028-A).
CC   Discontinued: ECACC; 66540639; true.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C148371; Temtamy syndrome
DI   ORDO; Orphanet_1777; Temtamy syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   5-9Y
CA   Induced pluripotent stem cell
DT   Created: 14-05-18; Last updated: 30-01-24; Version: 9
//