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Cellosaurus GM04855 (CVCL_1I61)

[Text version]
Cell line name GM04855
Accession CVCL_1I61
Resource Identification Initiative To cite this cell line use: GM04855 (RRID:CVCL_1I61)
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; 4851; HTT; Repeat_expansion; p.Gln18[48] (c.52CAG(48)) (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_1I60 ! GM04854
Sex of cell Male
Age at sampling 11Y
Category Finite cell line
Publications

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992)

PubMed=25928884; DOI=10.1186/s13024-015-0018-7
Evers M.M., Schut M.H., Pepers B.A., Atalar M., van Belzen M.J., Faull R.L.M., Roos R.A.C., van Roon-Mom W.M.C.
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; GM04855
Cell line databases/resources CLO; CLO_0018188
Encyclopedic resources Wikidata; Q54838722
Entry history
Entry creation08-Jul-2015
Last entry update29-Jun-2023
Version number11