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Cellosaurus GM04689 (CVCL_M952)

[Text version]
Cell line name GM04689
Accession CVCL_M952
Resource Identification Initiative To cite this cell line use: GM04689 (RRID:CVCL_M952)
Comments Part of: Venezuelan Huntington disease kindreds subcollection.
Population: South American (Brazil, Guyana, Venezuela).
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[45] (c.52CAG(45)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (from child cell line ND38545).
Disease Huntington's disease (NCIt: C82342)
Huntington disease (ORDO: Orphanet_399)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_Y814 (ND38545)
Originate from same individual CVCL_M953 ! GM04690
CVCL_W610 ! GM13184
Sex of cell Female
Age at sampling 30Y
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 misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

Cross-references
Cell line collections (Providers) Coriell; GM04689
Cell line databases/resources CLO; CLO_0019030
Encyclopedic resources Wikidata; Q54838631
Entry history
Entry creation05-Nov-2013
Last entry update02-May-2024
Version number16