Cellosaurus cell line EUFA353 (CVCL

Cross-references
Cell line name	EUFA353
Accession	CVCL_G065
Resource Identification Initiative	To cite this cell line use: EUFA353 (RRID:CVCL_G065)
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.Arg52Ter (c.154C>T); ClinVar=VCV000371668; Zygosity=Heterozygous (PubMed=10094191).
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=10094191; DOI=10.1038/sj.ejhg.5200248 Wijker M., Morgan N.V., Herterich S., van Berkel C.G.M., Tipping A.J., Gross H.-J., Gille J.J.P., Pals G., Savino M., Altay C., Mohan S., Dokal I., Cavenagh J.D., Marsh J., van Weel M., Ortega J.J., Schuler D., Samochatova E., Karwacki M.W., Bekassy A.N., Abecasis M., Ebell W., Kwee M.L., de Ravel T.J.L., Mathew C.G. Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene. Eur. J. Hum. Genet. 7:52-59(1999)
Encyclopedic resources	Wikidata; Q54832907
Entry history
Entry creation	11-Feb-2013
Last entry update	19-Dec-2024
Version number	14