ID   GM17509
AC   CVCL_5A86
DR   CLO; CLO_0012982
DR   BioSample; SAMN00804922
DR   Coriell; GM17509
DR   Wikidata; Q54848949
CC   Population: Southeast Asian; Filipino.
CC   Sequence variation: Mutation; HGNC; HGNC:1100; BRCA1; Simple; c.81-2delA (IVS2-2delA); ClinVar=VCV000055717; Zygosity=Unspecified; Note=Splice acceptor mutation (Coriell=GM17509).
CC   Sequence variation: Mutation; HGNC; HGNC:1100; BRCA1; Simple; p.Gly890Arg (c.2668G>A); ClinVar=VCV000054634; Zygosity=Unspecified (Coriell=GM17509).
CC   Sequence variation: Mutation; HGNC; HGNC:1101; BRCA2; Simple; p.Val2739Ile (c.8215G>A); ClinVar=VCV000052529; Zygosity=Unspecified (Coriell=GM17509).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C36100; BRCA1-associated hereditary breast and ovarian cancer syndrome
DI   ORDO; Orphanet_145; Hereditary breast and ovarian cancer syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   42Y
CA   Transformed cell line
DT   Created: 14-12-15; Last updated: 19-12-24; Version: 15
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