Cellosaurus cell line ND11807 (CVCL

Cross-references
Cell line name	ND11807
Accession	CVCL_BI17
Resource Identification Initiative	To cite this cell line use: ND11807 (RRID:CVCL_BI17)
Comments	Population: Caucasian. Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV). Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:12666; VCP; Simple; p.Arg159Cys (c.475C>T) (c.864C>T); ClinVar=VCV000280123; Zygosity=Heterozygous (PubMed=22572540).
Disease	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia (NCIt: C168754) Amyotrophic lateral sclerosis (ORDO: Orphanet_803)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	73Y
Category	Transformed cell line
Publications	PubMed=22572540; DOI=10.1016/j.neurobiolaging.2012.04.005; PMCID=PMC3391327 Abramzon Y., Johnson J.O., Scholz S.W., Taylor J.P., Brunetti M., Calvo A., Mandrioli J., Benatar M., Mora G., Restagno G., Chio A., Traynor B.J. Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosis. Neurobiol. Aging 33:2231.e1-2231.e6(2012)
Cell line collections (Providers)	Coriell; ND11807
Cell line databases/resources	CLO; CLO_0022445
Encyclopedic resources	Wikidata; Q54924445
Entry history
Entry creation	02-May-2016
Last entry update	19-Dec-2024
Version number	10