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Cellosaurus EUFA139 (CVCL_AK53)

[Text version]
Cell line name EUFA139
Accession CVCL_AK53
Resource Identification Initiative To cite this cell line use: EUFA139 (RRID:CVCL_AK53)
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; c.4010+(1_18)del (IVS40+1-18del); Zygosity=Homozygous (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)

Cross-references
Encyclopedic resources Wikidata; Q54832890
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number9