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Cellosaurus GM02182 (CVCL_W556)

[Text version]
Cell line name GM02182
Synonyms GM-2182; GM2182
Accession CVCL_W556
Resource Identification Initiative To cite this cell line use: GM02182 (RRID:CVCL_W556)
Comments Population: Caucasian.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Donor information: At sampling donor was not affected with Huntington disease but at significant risk for disease.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:4851; HTT; Repeat_expansion; p.Gln18[33] (c.52CAG(33)) (c.52CAG[(27_35)]); ClinVar=VCV000031915; Zygosity=Heterozygous (from autologous cell line GM02183).
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_W557 ! GM02183
Sex of cell Female
Age at sampling 21Y
Category Transformed cell line
Publications

DOI=10.5962/bhl.title.4090
Coriell L.L., Greene A.E.
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 4th edition. October 1977.
(In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977)

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; GM02182
Cell line databases/resources CLO; CLO_0031787
Biological sample resources BioSample; SAMN00807582
Encyclopedic resources Wikidata; Q54837356
Entry history
Entry creation16-Apr-2014
Last entry update19-Dec-2024
Version number17