Cellosaurus cell line EUFA232 (CVCL

Cross-references
Cell line name	EUFA232
Accession	CVCL_AK56
Resource Identification Initiative	To cite this cell line use: EUFA232 (RRID:CVCL_AK56)
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.Ser858Arg (c.2574C>G); ClinVar=VCV000134256; Zygosity=Heterozygous (PubMed=12955722). Mutation; HGNC; HGNC:3582; FANCA; Simple; c.3762_3763insAG; Zygosity=Heterozygous (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 Maria Savino, Adriana Borriello, Maria d'Apolito, Maria Criscuolo, Maria Del Vecchio, Anna Monica Bianco, Michele Di Perna, Rita Calzone, Bruno Nobili, Adriana Zatterale, Leopoldo Zelante ...Show all 14 authors... , Hans Joenje, Fulvio Della Ragione, Anna Savoia; Show fewer authors 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; Q54832897
Entry history
Entry creation	02-May-2016
Last entry update	19-Dec-2024
Version number	9