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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
Cunha-Oliveira T., Silva D.F., Segura L., Baldeiras I., Marques R., Rosenstock T., Oliveira P.J., Silva F.S.G.
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
Cunha-Oliveira T., Carvalho M., Sardao V., Ferreiro E., Mena D., Pereira F.B., Borges F., Oliveira P.J., Silva F.S.G.
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