Cellosaurus cell line EUFA483 (CVCL

Cross-references
Cell line name	EUFA483
Accession	CVCL_AK66
Resource Identification Initiative	To cite this cell line use: EUFA483 (RRID:CVCL_AK66)
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.Phe1263del (c.3788_3790delTCT); ClinVar=VCV000041003; 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; Q54832931
Entry history
Entry creation	02-May-2016
Last entry update	19-Dec-2024
Version number	9