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Cellosaurus ALS183 (CVCL_UF85)

[Text version]
Cell line name ALS183
Synonyms fALS line 183
Accession CVCL_UF85
Resource Identification Initiative To cite this cell line use: ALS183 (RRID:CVCL_UF85)
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=24379375).
Disease Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 (NCIt: C168756)
Frontotemporal dementia with motor neuron disease (ORDO: Orphanet_275872)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 51Y
Category Finite cell line
Publications

PubMed=24379375; DOI=10.1073/pnas.1314085111; PMCID=PMC3896192
Kathrin Meyer, Laura Ferraiuolo, Carlos J. Miranda, Shibi Likhite, Sohyun McElroy, Samantha Renusch, Dara Ditsworth, Clotilde Lagier-Tourenne, Richard A. Smith, John Ravits, Arthur H.M. Burghes ...Show all 15 authors... , Pamela Jean Shaw, Don Whitefield Cleveland, Stephen J. Kolb, Brian K. Kaspar; Show fewer authors
Direct conversion of patient fibroblasts demonstrates non-cell autonomous toxicity of astrocytes to motor neurons in familial and sporadic ALS.
Proc. Natl. Acad. Sci. U.S.A. 111:829-832(2014)

Cross-references
Encyclopedic resources Wikidata; Q93324331
Entry history
Entry creation13-Nov-2018
Last entry update10-Apr-2025
Version number10