ID   GM27948
AC   CVCL_C7L7
DR   Coriell; GM27948
DR   Wikidata; Q117704351
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:16627; CHEK2; Simple; p.Glu64Lys (c.190G>A); ClinVar=VCV000128068; Zygosity=Heterozygous (Coriell=GM27948).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C36107; Hereditary female breast carcinoma
DI   ORDO; Orphanet_227535; Hereditary breast cancer
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_C7L8 ! GM27953
SX   Female
AG   55Y
CA   Finite cell line
DT   Created: 21-03-23; Last updated: 19-12-24; Version: 4
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