Cellosaurus cell line EUFA223 (CVCL

Cross-references
Cell line name	EUFA223
Accession	CVCL_AK55
Resource Identification Initiative	To cite this cell line use: EUFA223 (RRID:CVCL_AK55)
Comments	Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV). Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:3582; FANCA; Simple; p.Ser947Ter (c.2840C>G); ClinVar=VCV000558253; Zygosity=Homozygous (PubMed=12955722).
Disease	Fanconi anemia, complementation group A (NCIt: C125702) Fanconi anemia (ORDO: Orphanet_84)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Category	Transformed cell line
Publications	PubMed=12955722; DOI=10.1002/humu.9180 Savino M., Borriello A., d'Apolito M., Criscuolo M., Del Vecchio M., Bianco A.M., Di Perna M., Calzone R., Nobili B., Zatterale A., Zelante L., Joenje H., Della Ragione F., Savoia A. Spectrum of FANCA mutations in Italian Fanconi anemia patients: identification of six novel alleles and phenotypic characterization of the S858R variant. Hum. Mutat. 22:338-339(2003)
Encyclopedic resources	Wikidata; Q54832896
Entry history
Entry creation	02-May-2016
Last entry update	19-Dec-2024
Version number	9