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Cellosaurus ALS-078 (CVCL_RL14)

[Text version]
Cell line name ALS-078
Accession CVCL_RL14
Resource Identification Initiative To cite this cell line use: ALS-078 (RRID:CVCL_RL14)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 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 Sex unspecified
Age at sampling Age unspecified
Category Induced pluripotent stem cell
Publications

PubMed=24139042; DOI=10.1016/j.neuron.2013.10.015; PMCID=PMC4098943
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
Encyclopedic resources Wikidata; Q54749300
Entry history
Entry creation05-Mar-2018
Last entry update19-Dec-2024
Version number10