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Cellosaurus GM14044 (CVCL_1J83)

[Text version]
Cell line name GM14044
Accession CVCL_1J83
Resource Identification Initiative To cite this cell line use: GM14044 (RRID:CVCL_1J83)
Comments 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[750] (c.52CAG(750)) (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)
Sex of cell Male
Age at sampling 16Y
Category Transformed cell line
Publications

PubMed=32656337; DOI=10.1126/sciadv.aaz4012; PMCID=PMC7334000
Ruiz Buendia G.A., Leleu M., Marzetta F., Vanzan L., Tan J.Y., Ythier V., Randall E.L., Marques A.C., Baubec T., Murr R., Xenarios I., Dion V.
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; GM14044
Cell line databases/resources CLO; CLO_0033775
Encyclopedic resources Wikidata; Q54846999
Entry history
Entry creation08-Jul-2015
Last entry update19-Dec-2024
Version number11