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Cellosaurus GM04688 (CVCL_Y862)

[Text version]
Cell line name GM04688
Synonyms GM04688A
Accession CVCL_Y862
Resource Identification Initiative To cite this cell line use: GM04688 (RRID:CVCL_Y862)
Comments Part of: Venezuelan Huntington disease kindreds subcollection.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 4851; HTT; Repeat_expansion; p.Gln18[49-50] (c.52CAG(49-50)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous.
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_Y861 ! GM04687
Sex of cell Female
Age at sampling 37Y
Category Transformed 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)

Cross-references
Cell line collections (Providers) Coriell; GM04688
Cell line databases/resources CLO; CLO_0019035
Encyclopedic resources Wikidata; Q54838630
Entry history
Entry creation10-Apr-2015
Last entry update29-Jun-2023
Version number12