Cellosaurus logo
expasy logo

Cellosaurus ND11749 (CVCL_BH92)

[Text][XML][JSON]
Cell line name ND11749
Accession CVCL_BH92
Resource Identification Initiative To cite this cell line use: ND11749 (RRID:CVCL_BH92)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:28337; C9orf72; Repeat_expansion; c.-45+163GGGGCC[>24] (GGGGCC repeat expansion); ClinVar=VCV000031151; Zygosity=Heterozygous (PubMed=22815561).
Disease Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 (NCIt: C168756)
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 68Y
Category Transformed cell line
Publications

PubMed=22815561; DOI=10.1212/WNL.0b013e31826170f1; PMCID=PMC3467648
Nicola J. Rutherford, Mariely DeJesus-Hernandez, Matt C. Baker, Thomas B. Kryston, Patricia E. Brown, Catherine Lomen-Hoerth, Kevin Boylan, Zbigniew Kudzin Wszolek, Rosa Rademakers;
C9ORF72 hexanucleotide repeat expansions in patients with ALS from the Coriell Cell Repository.
Neurology 79:482-483(2012)

Cross-references
Cell line collections (Providers) Coriell; ND11749
Cell line databases/resources CLO; CLO_0018153
Encyclopedic resources Wikidata; Q54924385
Entry history
Entry creation02-May-2016
Last entry update10-Apr-2025
Version number12