ID   EUFA423L
AC   CVCL_G068
SY   EUFA423
DR   Wikidata; Q54832912
RX   PubMed=10468606;
RX   PubMed=12065746;
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; 10376; Epstein-Barr virus (EBV).
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_AK16 ! EUFA423F
SX   Female
AG   3Y
CA   Transformed cell line
DT   Created: 11-02-13; Last updated: 19-12-24; Version: 13
//
RX   PubMed=10468606; DOI=10.1073/pnas.96.18.10320; PMCID=PMC17886;
RA   Waisfisz Q., de Winter J.P., Kruyt F.A.E., de Groot J., van der Weel L.,
RA   Dijkmans L.M., Zhi Y., Arwert F., Scheper R.J., Youssoufian H.,
RA   Hoatlin M.E., Joenje H.;
RT   "A physical complex of the Fanconi anemia proteins FANCG/XRCC9 and
RT   FANCA.";
RL   Proc. Natl. Acad. Sci. U.S.A. 96:10320-10325(1999).
//
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).
//