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Cellosaurus ND11460 (CVCL_BG72)

[Text version]
Cell line name ND11460
Accession CVCL_BG72
Resource Identification Initiative To cite this cell line use: ND11460 (RRID:CVCL_BG72)
Comments 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; Unexplicit; IVS12+9T>C; Zygosity=Heterozygous; Note=VUS (PubMed=22572540).
Disease Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia (NCIt: C168754)
Frontotemporal dementia with motor neuron disease (ORDO: Orphanet_275872)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 75Y
Category Transformed cell line
Publications

PubMed=22572540; DOI=10.1016/j.neurobiolaging.2012.04.005; PMCID=PMC3391327
Yevgeniya Abramzon, Janel O. Johnson, Sonja W. Scholz, J. Paul Taylor, Maura Brunetti, Andrea Calvo, Jessica Mandrioli, Michael Benatar, Gabriele Mora, Gabriella Restagno, Adriano Chio, Bryan J. Traynor;
Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosis.
Neurobiol. Aging 33:2231.e1-2231.e6(2012)

Cross-references
Cell line collections (Providers) Coriell; ND11460
Cell line databases/resources CLO; CLO_0019304
Encyclopedic resources Wikidata; Q54924108
Entry history
Entry creation02-May-2016
Last entry update10-Apr-2025
Version number11