ID   GM28915
AC   CVCL_C7L9
SY   GM28915*B
DR   Coriell; GM28915
DR   Wikidata; Q117704453
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:16627; CHEK2; Simple; p.Glu64Lys (c.190G>A); ClinVar=VCV000128068; Zygosity=Heterozygous (Coriell=GM28915).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C36107; Hereditary female breast carcinoma
DI   ORDO; Orphanet_227535; Hereditary breast cancer
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_C7L8 ! GM27953
SX   Female
AG   55Y
CA   Induced pluripotent stem cell
DT   Created: 21-03-23; Last updated: 19-12-24; Version: 4
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