ID   GM14622
AC   CVCL_7605
DR   CLO; CLO_0031686
DR   Coriell; GM14622
DR   Wikidata; Q54847342
RX   PubMed=22152194;
CC   Sequence variation: Mutation; HGNC; HGNC:1101; BRCA2; Simple; p.Leu2092Profs*7 (c.6275_6276delTT); ClinVar=VCV000009318; Zygosity=Unspecified (Coriell=GM14622).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C36101; BRCA2-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   39Y
CA   Transformed cell line
DT   Created: 04-04-12; Last updated: 19-12-24; Version: 20
//
RX   PubMed=22152194; DOI=10.1186/2041-9414-2-9; PMCID=PMC3264516;
RA   Sapir E., Gozaly-Chianea Y., Al-Wahiby S., Ravindran S., Yasaei H.,
RA   Slijepcevic P.;
RT   "Effects of BRCA2 deficiency on telomere recombination in non-ALT and
RT   ALT cells.";
RL   Genome Integr. 2:9.1-9.7(2011).
//