ID   EUFA444
AC   CVCL_G070
SY   EUFA 444
DR   Wikidata; Q54832915
RX   PubMed=9713825;
RX   PubMed=10094191;
CC   Sequence variation: Mutation; HGNC; HGNC:3582; FANCA; Simple; c.827_1225del399 (Ex10-13del); Zygosity=Heterozygous (PubMed=10094191).
CC   Sequence variation: Mutation; HGNC; HGNC:3582; FANCA; Simple; p.Val372Alafs*42 (c.1111_1114TTGG[1]) (c.1115_1118delTTGG); ClinVar=VCV000003440; 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: 12
//
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).
//