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Cellosaurus GM05538 (CVCL_1I94)

[Text version]
Cell line name GM05538
Accession CVCL_1I94
Resource Identification Initiative To cite this cell line use: GM05538 (RRID:CVCL_1I94)
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[97] (c.52CAG(97)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (from autologous cell line GM05539).
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_1I95 ! GM05539
Sex of cell Male
Age at sampling 10Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM05538
Encyclopedic resources Wikidata; Q54839045
Entry history
Entry creation08-Jul-2015
Last entry update19-Dec-2024
Version number12