ID   EUFA423F
AC   CVCL_AK16
SY   EUFA423
DR   Wikidata; Q54832911
RX   PubMed=12065746;
RX   PubMed=22152194;
CC   Sequence variation: Mutation; HGNC; HGNC:1101; BRCA2; Simple; p.Asp2489Terfs (c.7464_7465insTA) (7691insAT); Zygosity=Heterozygous (PubMed=12065746).
CC   Sequence variation: Mutation; HGNC; HGNC:1101; BRCA2; Simple; p.Tyr3225Ilefs*30 (c.9672dupA) (9900insA); ClinVar=VCV000126217; Zygosity=Heterozygous (PubMed=12065746).
CC   Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C125705; Fanconi anemia, complementation group D1
DI   ORDO; Orphanet_84; Fanconi anemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_G068 ! EUFA423L
SX   Female
AG   3Y
CA   Transformed cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 11
//
RX   PubMed=12065746; DOI=10.1126/science.1073834;
RA   Howlett N.G., Taniguchi T., Olson S., Cox B., Waisfisz Q.,
RA   de Die-Smulders C.E.M., Persky N., Grompe M., Joenje H., Pals G.,
RA   Ikeda H., Fox E.A., D'Andrea A.D.;
RT   "Biallelic inactivation of BRCA2 in Fanconi anemia.";
RL   Science 297:606-609(2002).
//
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).
//