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Cellosaurus EUFA316 (CVCL_G063)

[Text version]
Cell line name EUFA316
Synonyms EUFA 316C
Accession CVCL_G063
Resource Identification Initiative To cite this cell line use: EUFA316 (RRID:CVCL_G063)
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; p.Glu395Trpfs*5 (c.1183_1192delTGAGGTGTTTTinsC) (1184-1194del); ClinVar=VCV000041224; Zygosity=Heterozygous (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 Female
Age at sampling 3-9Y
Category Transformed cell line
Publications

PubMed=9806548; DOI=10.1038/3093
Johan P. de Winter, Quinten Waisfisz, Martin A. Rooimans, Carola G.M. van Berkel, Lucine Bosnoyan-Collins, Noa Alon, Madeleine Carreau, Olaf Bender, Ilja Demuth, Detlev Schindler, Jan C. Pronk ...Show all 16 authors... , Fre Arwert, Holger Hoehn, Martin Digweed, Manuel Buchwald, Hans Joenje; Show fewer authors
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
Quinten Waisfisz, Johan P. de Winter, Frank A.E. Kruyt, Jan de Groot, Laura van der Weel, Lonneke M. Dijkmans, Yu Zhi, Fre Arwert, Riekeld J. Scheper, Hagop Youssoufian, Maureen E. Hoatlin, Hans Joenje;
A physical complex of the Fanconi anemia proteins FANCG/XRCC9 and FANCA.
Proc. Natl. Acad. Sci. U.S.A. 96:10320-10325(1999)

PubMed=11050007; DOI=10.1182/blood.V96.9.3224
Irene Garcia-Higuera, Ya-Nan Kuang, Jessica Denham, Alan David D'Andrea;
The Fanconi anemia proteins FANCA and FANCG stabilize each other and promote the nuclear accumulation of the Fanconi anemia complex.
Blood 96:3224-3230(2000)

PubMed=16166284; DOI=10.1158/0008-5472.CAN-04-1198
David J. Araten, David W. Golde, Rong H. Zhang, Howard Tzvi Thaler, Lucia Gargiulo, Rosario Notaro, Lucio Luzzatto;
A quantitative measurement of the human somatic mutation rate.
Cancer Res. 65:8111-8117(2005)

Cross-references
Encyclopedic resources Wikidata; Q54832904
Entry history
Entry creation11-Feb-2013
Last entry update19-Dec-2024
Version number14