Cellosaurus cell line IFAR-849 (CVCL

Cross-references
Cell line name	IFAR-849
Accession	CVCL_A2WU
Resource Identification Initiative	To cite this cell line use: IFAR-849 (RRID:CVCL_A2WU)
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.Asn1039Ilefs*2 (c.3116delA); ClinVar=VCV000126715; Zygosity=Heterozygous (PubMed=17200671). Mutation; HGNC; HGNC:26144; PALB2; Simple; p.Tyr1183Ter (c.3549C>G); ClinVar=VCV000001245; 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 Sarah Reid, Detlev Schindler, Helmut Hanenberg, Karen Barker, Sandra Hanks, Reinhard Kalb, Kornelia Neveling, Patrick Kelly, Sheila Seal, Marcel Freund, Melanie Wurm ...Show all 20 authors... , Sat Dev Batish, Francis P. Lach, Sevgi Yetgin, Heidemarie Neitzel, Hany Ariffin, Marc Tischkowitz, Christopher G. Mathew, Arleen D. Auerbach, Nazneen Rahman; Show fewer authors Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer. Nat. Genet. 39:162-164(2007)
Encyclopedic resources	Wikidata; Q105509637
Entry history
Entry creation	12-Jan-2021
Last entry update	19-Dec-2024
Version number	5