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Cellosaurus GM02164 (CVCL_F056)

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Cell line name GM02164
Synonyms GM-2164; GM02164B
Accession CVCL_F056
Resource Identification Initiative To cite this cell line use: GM02164 (RRID:CVCL_F056)
Comments Population: Caucasian.
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[44] (c.52CAG(44)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (PubMed=32656337).
  • Mutation; HGNC; HGNC:4851; HTT; Repeat_expansion; p.Gln18[56] (c.52CAG(56)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (PubMed=32656337).
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_F057 ! GM02165
Sex of cell Male
Age at sampling 58Y
Category Transformed cell line
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)

PubMed=32656337; DOI=10.1126/sciadv.aaz4012; PMCID=PMC7334000
Gustavo A. Ruiz Buendia, Marion Leleu, Flavia Marzetta, Ludovica Vanzan, Jennifer Y. Tan, Victor Ythier, Emma L. Randall, Ana Claudia Marques, Tuncay Baubec, Rabih Murr, Ioannis Xenarios, Vincent Dion;
Three-dimensional chromatin interactions remain stable upon CAG/CTG repeat expansion.
Sci. Adv. 6:eaaz4012.1-eaaz4012.12(2020)

Cross-references
Cell line collections (Providers) Coriell; GM02164
Cell line databases/resources CLO; CLO_0031886
Biological sample resources BioSample; SAMN00807550
Encyclopedic resources Wikidata; Q54837340
Entry history
Entry creation22-Oct-2012
Last entry update19-Dec-2024
Version number17