ID   EUFA268
AC   CVCL_G062
DR   Wikidata; Q54832902
RX   PubMed=10468606;
RX   PubMed=12955722;
CC   Sequence variation: Mutation; HGNC; HGNC:3582; FANCA; Simple; p.Gln772Ter (c.2314C>T); ClinVar=VCV000656626; Zygosity=Homozygous (PubMed=10468606).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C125702; Fanconi anemia, complementation group A
DI   ORDO; Orphanet_84; Fanconi anemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
CA   Transformed cell line
DT   Created: 11-02-13; Last updated: 19-12-24; Version: 14
//
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=12955722; DOI=10.1002/humu.9180;
RA   Savino M., Borriello A., d'Apolito M., Criscuolo M., Del Vecchio M.,
RA   Bianco A.M., Di Perna M., Calzone R., Nobili B., Zatterale A.,
RA   Zelante L., Joenje H., Della Ragione F., Savoia A.;
RT   "Spectrum of FANCA mutations in Italian Fanconi anemia patients:
RT   identification of six novel alleles and phenotypic characterization of
RT   the S858R variant.";
RL   Hum. Mutat. 22:338-339(2003).
//