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Cellosaurus EUFA349 (CVCL_G064)

[Text version]
Cell line name EUFA349
Accession CVCL_G064
Resource Identification Initiative To cite this cell line use: EUFA349 (RRID:CVCL_G064)
Comments Population: Caucasian; German.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:3588; FANCG; Simple; p.Glu105Ter (c.313G>T); ClinVar=VCV000006712; Zygosity=Heterozygous (PubMed=9806548).
  • Mutation; HGNC; HGNC:3588; FANCG; Simple; c.1480+1G>C (IVS11+1G>C); ClinVar=VCV000006717; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=9806548).
Disease Fanconi anemia, complementation group G (NCIt: C125708)
Fanconi anemia (ORDO: Orphanet_84)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 3-8Y
Category Transformed cell line
Publications

PubMed=9806548; DOI=10.1038/3093
de Winter J.P., Waisfisz Q., Rooimans M.A., van Berkel C.G.M., Bosnoyan-Collins L., Alon N., Carreau M., Bender O., Demuth I., Schindler D., Pronk J.C., Arwert F., Hoehn H., Digweed M., Buchwald M., Joenje H.
The Fanconi anaemia group G gene FANCG is identical with XRCC9.
Nat. Genet. 20:281-283(1998)

PubMed=10468606; DOI=10.1073/pnas.96.18.10320; PMCID=PMC17886
Waisfisz Q., de Winter J.P., Kruyt F.A.E., de Groot J., van der Weel L., Dijkmans L.M., Zhi Y., Arwert F., Scheper R.J., Youssoufian H., Hoatlin M.E., Joenje H.
A physical complex of the Fanconi anemia proteins FANCG/XRCC9 and FANCA.
Proc. Natl. Acad. Sci. U.S.A. 96:10320-10325(1999)

Cross-references
Encyclopedic resources Wikidata; Q54832906
Entry history
Entry creation11-Feb-2013
Last entry update19-Dec-2024
Version number11