ID   GM14092
AC   CVCL_5A77
DR   CLO; CLO_0034057
DR   Coriell; GM14092
DR   Wikidata; Q54847038
CC   Sequence variation: Mutation; HGNC; HGNC:1100; BRCA1; Simple; p.Val1713Ala (c.5138T>C); ClinVar=VCV000055412; Zygosity=Unspecified (Coriell=GM14092).
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   56Y
CA   Transformed cell line
DT   Created: 14-12-15; Last updated: 19-12-24; Version: 14
//