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Cellosaurus GM05539 (CVCL_1I95)

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Cell line name GM05539
Accession CVCL_1I95
Resource Identification Initiative To cite this cell line use: GM05539 (RRID:CVCL_1I95)
Comments Part of: Venezuelan Huntington disease kindreds subcollection.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:4851; HTT; Repeat_expansion; p.Gln18[97] (c.52CAG(97)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (PubMed=25928884).
Disease Huntington's disease (NCIt: C82342)
Huntington disease (ORDO: Orphanet_399)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_1I94 ! GM05538
Sex of cell Male
Age at sampling 10Y
Category Finite cell line
Publications

PubMed=25928884; DOI=10.1186/s13024-015-0018-7; PMCID=PMC4411791
Melvin M. Evers, Menno H. Schut, Barry A. Pepers, Melek Atalar, Martine J. van Belzen, Richard Lewis Maxwell Faull, Raymund A.C. Roos, Willeke M.C. van Roon-Mom;
Making (anti-) sense out of huntingtin levels in Huntington disease.
Mol. Neurodegener. 10:21.1-21.11(2015)

Cross-references
Cell line collections (Providers) Coriell; GM05539
Cell line databases/resources CLO; CLO_0024784
Encyclopedic resources Wikidata; Q54841861
Entry history
Entry creation08-Jul-2015
Last entry update19-Dec-2024
Version number12