ID   EUFA123
AC   CVCL_G054
SY   93VU123
DR   Wikidata; Q54832885
RX   PubMed=7662964;
RX   PubMed=10094191;
CC   Sequence variation: Mutation; HGNC; HGNC:3582; FANCA; Simple; c.597-2A>G (IVS6-2A>G); ClinVar=VCV000974288; Zygosity=Heterozygous; Note=Splice acceptor mutation (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: 13
//
RX   PubMed=7662964; DOI=10.1182/blood.V86.6.2156.bloodjournal8662156;
RA   Joenje H., Lo ten Foe J.R., Oostra A.B., van Berkel C.G.M.,
RA   Rooimans M.A., Schroeder-Kurth T.M., Wegner R.-D., Gille J.J.P.,
RA   Buchwald M., Arwert F.;
RT   "Classification of Fanconi anemia patients by complementation
RT   analysis: evidence for a fifth genetic subtype.";
RL   Blood 86:2156-2160(1995).
//
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).
//