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Cellosaurus ND11548 (CVCL_BH04)

[Text version]
Cell line name ND11548
Accession CVCL_BH04
Resource Identification Initiative To cite this cell line use: ND11548 (RRID:CVCL_BH04)
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)
Amyotrophic lateral sclerosis (ORDO: Orphanet_803)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 69Y
Category Transformed cell line
Publications

PubMed=22815561; DOI=10.1212/WNL.0b013e31826170f1; PMCID=PMC3467648
Rutherford N.J., DeJesus-Hernandez M., Baker M.C., Kryston T.B., Brown P.E., Lomen-Hoerth C., Boylan K., Wszolek Z.K., Rademakers R.
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; ND11548
Cell line databases/resources CLO; CLO_0017675
Encyclopedic resources Wikidata; Q54924187
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number11