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Cellosaurus EUFA121 (CVCL_G040)

[Text version]
Cell line name EUFA121
Synonyms EUFA121L; GM16757
Accession CVCL_G040
Resource Identification Initiative To cite this cell line use: EUFA121 (RRID:CVCL_G040)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 3587; FANCF; Simple; p.Gln6Ter (c.16C>T); ClinVar=VCV000006342; Zygosity=Heterozygous (Coriell=GM16757).
  • Mutation; HGNC; 3587; FANCF; Simple; p.Gly120Profs*17 (c.351_397del47) (349_395del); ClinVar=VCV000006341; Zygosity=Heterozygous (Coriell=GM16757).
Disease Fanconi anemia, complementation group F (NCIt: C125707)
Fanconi anemia (ORDO: Orphanet_84)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Category Transformed cell line
Publications

PubMed=11001585; DOI=10.1016/S0002-9297(07)62959-0
de Winter J.P., Leveille F., van Berkel C.G.M., Rooimans M.A., van der Weel L., Steltenpool J., Demuth I., Morgan N.V., Alon N., Bosnoyan-Collins L., Lightfoot J., Leegwater P.A.J., Waisfisz Q., Komatsu K., Arwert F., Pronk J.C., Mathew C.G., Digweed M., Buchwald M., Joenje H.
Isolation of a cDNA representing the Fanconi anemia complementation group E gene.
Am. J. Hum. Genet. 67:1306-1308(2000)

PubMed=12065746; DOI=10.1126/science.1073834
Howlett N.G., Taniguchi T., Olson S., Cox B., Waisfisz Q., de Die-Smulders C.E.M., Persky N., Grompe M., Joenje H., Pals G., Ikeda H., Fox E.A., D'Andrea A.D.
Biallelic inactivation of BRCA2 in Fanconi anemia.
Science 297:606-609(2002)

Cross-references
Cell line collections (Providers) Coriell; GM16757
Cell line databases/resources CLO; CLO_0018433
Encyclopedic resources Wikidata; Q54832884
Entry history
Entry creation11-Feb-2013
Last entry update30-Jan-2024
Version number16