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Cellosaurus GM04690 (CVCL_M953)

[Text version]
Cell line name GM04690
Synonyms GM04690B; GM13056; GM17317
Accession CVCL_M953
Resource Identification Initiative To cite this cell line use: GM04690 (RRID:CVCL_M953)
Comments Part of: CEPH/Venezuelan pedigree cell line collection.
Part of: Human variation panel.
Part of: Venezuelan Huntington disease kindreds subcollection.
Registration: CEPH Families Reference Panel; 10205/10402.
Population: South American (Brazil, Guyana, Venezuela).
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:4851; HTT; Repeat_expansion; p.Gln18[45] (c.52CAG(45)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (from autologous cell line GM04689).
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_M952 ! GM04689
CVCL_W610 ! GM13184
Sex of cell Female
Age at sampling 30Y
Category Transformed cell line
Web pages Info; CEPH; -; https://www.cephb.fr/en/familles_CEPH.php
Publications

CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
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; GM04690
Coriell; GM13056
Coriell; GM17317
Cell line databases/resources CLO; CLO_0013319
CLO; CLO_0013827
CLO; CLO_0019031
Biological sample resources BioSample; SAMN00802074
Encyclopedic resources Wikidata; Q54838632
Entry history
Entry creation05-Nov-2013
Last entry update10-Apr-2025
Version number21