Cellosaurus cell line EUFA1341 LCL (CVCL

Entry history
Cell line name	EUFA1341 LCL
Accession	CVCL_D7EH
Resource Identification Initiative	To cite this cell line use: EUFA1341 LCL (RRID:CVCL_D7EH)
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.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_D7EG ! EUFA1341
Sex of cell	Female
Age at sampling	2Y
Category	Transformed cell line
Publications	PubMed=17200672; DOI=10.1038/ng1942 Bing Xia, Josephine C. Dorsman, Najim Ameziane, Yne de Vries, Martin A. Rooimans, Qing Sheng, Gerard Pals, Abdellatif Errami, Eliane Gluckman, Julian Llera, Wei-Dong Wang ...Show all 14 authors... , David Morse Livingston, Hans Joenje, Johan P. de Winter; Show fewer authors Fanconi anemia is associated with a defect in the BRCA2 partner PALB2. Nat. Genet. 39:159-161(2007)
Entry creation	10-Sep-2024
Last entry update	19-Dec-2024
Version number	2