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Cellosaurus ALS11 (CVCL_UF83)

[Text version]
Cell line name ALS11
Synonyms sALS line 11
Accession CVCL_UF83
Resource Identification Initiative To cite this cell line use: ALS11 (RRID:CVCL_UF83)
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)
Amyotrophic lateral sclerosis (ORDO: Orphanet_803)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 52Y
Category Finite cell line
Publications

PubMed=24379375; DOI=10.1073/pnas.1314085111; PMCID=PMC3896192
Meyer K., Ferraiuolo L., Miranda C.J., Likhite S., McElroy S., Renusch S., Ditsworth D., Lagier-Tourenne C., Smith R.A., Ravits J., Burghes A.H.M., Shaw P.J., Cleveland D.W., Kolb S.J., Kaspar B.K.
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; Q93324329
Entry history
Entry creation13-Nov-2018
Last entry update19-Dec-2024
Version number9