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Cellosaurus ND13750 (CVCL_BP71)

[Text version]
Cell line name ND13750
Accession CVCL_BP71
Resource Identification Initiative To cite this cell line use: ND13750 (RRID:CVCL_BP71)
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:11179; SOD1; Simple; p.Ala5Val (c.14C>T) (A4V); ClinVar=VCV000014763; Zygosity=Unspecified (Coriell=ND13750).
Disease Amyotrophic lateral sclerosis 1 (NCIt: C168749)
Amyotrophic lateral sclerosis (ORDO: Orphanet_803)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 26Y
Category Transformed cell line
Publications

PubMed=35467758; DOI=10.1111/eci.13798
Teresa Cunha-Oliveira, Daniela Franco Silva, Luis Segura, Ines Baldeiras, Ricardo Marques, Tatiana Rosenstock, Paulo Jorge Oliveira, Filomena S.G. Silva;
Redox profiles of amyotrophic lateral sclerosis lymphoblasts with or without known SOD1 mutations.
Eur. J. Clin. Invest. 52:e13798.1-e13798.16(2022)

PubMed=35933467; DOI=10.1007/s12035-022-02980-7
Teresa Cunha-Oliveira, Marcelo Carvalho, Vilma Sardao, Elisabete Ferreiro, Debora Mena, Francisco B. Pereira, Fernanda Borges, Paulo Jorge Oliveira, Filomena S.G. Silva;
Integrative profiling of amyotrophic lateral sclerosis lymphoblasts identifies unique metabolic and mitochondrial disease fingerprints.
Mol. Neurobiol. 59:6373-6396(2022)

Cross-references
Cell line collections (Providers) Coriell; ND13750
Cell line databases/resources CLO; CLO_0034179
Encyclopedic resources Wikidata; Q54926037
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number15