Cellosaurus cell line EUFA1341 (CVCL

Cellosaurus EUFA1341 (CVCL_D7EG)

Cross-references
Cell line name	EUFA1341
Synonyms	EUFA1341-F SV40
Accession	CVCL_D7EG
Resource Identification Initiative	To cite this cell line use: EUFA1341 (RRID:CVCL_D7EG)
Comments	Genetic integration: Method=Transfection; Gene=UniProtKB; P03070; SV40 large T antigen. Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40). Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:26144; PALB2; Simple; p.Tyr551Ter (c.1653T>A); ClinVar=VCV000001243; Zygosity=Heterozygous (PubMed=17200672). Mutation; HGNC; HGNC:26144; PALB2; Unexplicit; Ex4del; Zygosity=Heterozygous (PubMed=17200672).
Disease	Fanconi anemia, complementation group N (NCIt: C176894) Fanconi anemia (ORDO: Orphanet_84)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_D7EH ! EUFA1341 LCL
Sex of cell	Female
Age at sampling	2Y
Category	Transformed cell line
Publications	PubMed=17200672; DOI=10.1038/ng1942 Xia B., Dorsman J.C., Ameziane N., de Vries Y., Rooimans M.A., Sheng Q., Pals G., Errami A., Gluckman E., Llera J., Wang W.-D., Livingston D.M., Joenje H., de Winter J.P. Fanconi anemia is associated with a defect in the BRCA2 partner PALB2. Nat. Genet. 39:159-161(2007) PubMed=28319063; DOI=10.1038/onc.2017.46; PMCID=PMC5519427 Foo T.K., Tischkowitz M., Simhadri S., Boshari T., Zayed N., Burke K.A., Berman S.H., Blecua P., Riaz N., Huo Y.-Y., Ding Y.-C., Neuhausen S.L., Weigelt B., Reis-Filho J.S., Foulkes W.D., Xia B. Compromised BRCA1-PALB2 interaction is associated with breast cancer risk. Oncogene 36:4161-4170(2017)
Experimental variables resources	EFO; EFO_0022524
Entry history
Entry creation	10-Sep-2024
Last entry update	19-Dec-2024
Version number	2