ID   EUFA262
AC   CVCL_AK59
DR   Wikidata; Q54832900
RX   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: 29-06-23; Version: 7
//
RX   PubMed=12955722; DOI=10.1002/humu.9180;
RA   Savino, Maria
RA   Borriello, Adriana
RA   d'Apolito, Maria
RA   Criscuolo, Maria
RA   Del Vecchio, Maria
RA   Bianco, Anna Monica
RA   Di Perna, Michele
RA   Calzone, Rita
RA   Nobili, Bruno
RA   Zatterale, Adriana
RA   Zelante, Leopoldo
RA   Joenje, Hans
RA   Della Ragione, Fulvio
RA   Savoia, Anna
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).
//