Cellosaurus cell line EUFA143 (CVCL

Cross-references
Cell line name	EUFA143
Synonyms	EUFA143B
Accession	CVCL_G057
Resource Identification Initiative	To cite this cell line use: EUFA143 (RRID:CVCL_G057)
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=Homozygous (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	1-14Y
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)
Encyclopedic resources	Wikidata; Q54832891
Experimental variables resources	EFO; EFO_0022588
Entry history
Entry creation	11-Feb-2013
Last entry update	19-Dec-2024
Version number	14