Cellosaurus cell line IFAR-847 (CVCL

Cross-references
Cell line name	IFAR-847
Accession	CVCL_A2WT
Resource Identification Initiative	To cite this cell line use: IFAR-847 (RRID:CVCL_A2WT)
Comments	Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV). Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:26144; PALB2; Simple; p.Arg753Ter (c.2257C>T); ClinVar=VCV002418913; ClinVar=VCV000142403; Zygosity=Heterozygous (PubMed=17200671). Mutation; HGNC; HGNC:26144; PALB2; Simple; p.Tyr1183Ter (c.3549C>A); ClinVar=VCV000128144; Zygosity=Heterozygous (PubMed=17200671).
Disease	Fanconi anemia, complementation group N (NCIt: C176894) Fanconi anemia (ORDO: Orphanet_84)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Category	Transformed cell line
Publications	PubMed=17200671; DOI=10.1038/ng1947 Reid S., Schindler D., Hanenberg H., Barker K., Hanks S., Kalb R., Neveling K., Kelly P., Seal S., Freund M., Wurm M., Batish S.D., Lach F.P., Yetgin S., Neitzel H., Ariffin H., Tischkowitz M., Mathew C.G., Auerbach A.D., Rahman N. Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer. Nat. Genet. 39:162-164(2007)
Encyclopedic resources	Wikidata; Q105509634
Entry history
Entry creation	12-Jan-2021
Last entry update	19-Dec-2024
Version number	5