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Cellosaurus GM04856 (CVCL_1I62)

[Text version]
Cell line name GM04856
Synonyms GM04856B
Accession CVCL_1I62
Resource Identification Initiative To cite this cell line use: GM04856 (RRID:CVCL_1I62)
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; HGNC:4851; HTT; Repeat_expansion; p.Gln18[40] (c.52CAG(40)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (from autologous cell line GM04857).
  • Mutation; HGNC; HGNC:4851; HTT; Repeat_expansion; p.Gln18[50] (c.52CAG(50)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (from autologous cell line GM04857).
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_1I63 ! GM04857
Sex of cell Female
Age at sampling 23Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM04856
Cell line databases/resources CLO; CLO_0018183
Encyclopedic resources Wikidata; Q54838723
Entry history
Entry creation08-Jul-2015
Last entry update19-Dec-2024
Version number13