ID   EUFA275
AC   CVCL_G061
SY   EUFA 275
DR   Wikidata; Q54832903
RX   PubMed=9713825;
RX   PubMed=10094191;
CC   Sequence variation: Mutation; HGNC; HGNC:3582; FANCA; Simple; p.Glu1254Ter (c.3760G>T); ClinVar=VCV000974261; Zygosity=Heterozygous (PubMed=10094191).
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: 15
//
RX   PubMed=9713825; PMCID=PMC2230330;
RA   Pulsipher M., Kupfer G.M., Naf D., Suliman A., Lee J.-S., Jakobs P.M.,
RA   Grompe M., Joenje H., Sieff C.A., Guinan E., Mulligan R.C.,
RA   D'Andrea A.D.;
RT   "Subtyping analysis of Fanconi anemia by immunoblotting and retroviral
RT   gene transfer.";
RL   Mol. Med. 4:468-479(1998).
//
RX   PubMed=10094191; DOI=10.1038/sj.ejhg.5200248;
RA   Wijker M., Morgan N.V., Herterich S., van Berkel C.G.M., Tipping A.J.,
RA   Gross H.-J., Gille J.J.P., Pals G., Savino M., Altay C., Mohan S.,
RA   Dokal I., Cavenagh J.D., Marsh J., van Weel M., Ortega J.J., Schuler D.,
RA   Samochatova E., Karwacki M.W., Bekassy A.N., Abecasis M., Ebell W.,
RA   Kwee M.L., de Ravel T.J.L., Mathew C.G.;
RT   "Heterogeneous spectrum of mutations in the Fanconi anaemia group A
RT   gene.";
RL   Eur. J. Hum. Genet. 7:52-59(1999).
//