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Cellosaurus ALS-050 (CVCL_RL11)

[Text version]
Cell line name ALS-050
Synonyms ALS-50; ALS50; HEL13.1; UHi002-A
Accession CVCL_RL11
Resource Identification Initiative To cite this cell line use: ALS-050 (RRID:CVCL_RL11)
Comments Omics: Transcriptome analysis by microarray.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 28337; C9orf72; Repeat_expansion; c.-45+163GGGGCC[>24] (GGGGCC repeat expansion); ClinVar=VCV000031151; Zygosity=Unspecified (PubMed=24139042).
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 Age unspecified
Category Induced pluripotent stem cell
Publications

PubMed=24139042; DOI=10.1016/j.neuron.2013.10.015
Donnelly C.J., Zhang P.-W., Pham J.T., Haeusler A.R., Mistry N.A., Vidensky S., Daley E.L., Poth E.M., Hoover B., Fines D.M., Maragakis N.J., Tienari P.J., Petrucelli L., Traynor B.J., Wang J., Rigo F., Bennett C.F., Blackshaw S., Sattler R., Rothstein J.D.
RNA toxicity from the ALS/FTD C9ORF72 expansion is mitigated by antisense intervention.
Neuron 80:415-428(2013)

Cross-references
Cell line databases/resources hPSCreg; UHi002-A
SKIP; SKIP001312
Biological sample resources BioSamples; SAMEA5236073
Encyclopedic resources Wikidata; Q54749292
Entry history
Entry creation05-Mar-2018
Last entry update29-Jun-2023
Version number10