ID   GM14624
AC   CVCL_CW83
DR   CLO; CLO_0031682
DR   Coriell; GM14624
DR   Wikidata; Q54847344
CC   Sequence variation: Mutation; HGNC; HGNC:1101; BRCA2; Simple; p.Leu1908Argfs*2 (c.5718_5719CT[2]) (c.5722_5723delCT); ClinVar=VCV000009320; Zygosity=Unspecified (Coriell=GM14624).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C36101; BRCA2 syndrome
DI   ORDO; Orphanet_145; Hereditary breast and ovarian cancer syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   60Y
CA   Transformed cell line
DT   Created: 13-07-16; Last updated: 10-04-25; Version: 14
//