ID   EUFA223
AC   CVCL_AK55
DR   Wikidata; Q54832896
RX   PubMed=12955722;
CC   Sequence variation: Mutation; HGNC; HGNC:3582; FANCA; Simple; p.Ser947Ter (c.2840C>G); ClinVar=VCV000558253; Zygosity=Homozygous (PubMed=12955722).
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: 02-05-16; Last updated: 19-12-24; Version: 9
//
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).
//