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Cellosaurus ND34510 (CVCL_UT54)

[Text version]
Cell line name ND34510
Accession CVCL_UT54
Resource Identification Initiative To cite this cell line use: ND34510 (RRID:CVCL_UT54)
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:20856; THAP1; Simple; p.Ile149Thr (c.446T>C); Zygosity=Heterozygous (Coriell=ND34510).
Disease Torsion dystonia 6 (NCIt: C156361)
Primary dystonia, DYT6 type (ORDO: Orphanet_98806)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_EZ51 ! ND40075
Sex of cell Male
Age at sampling 66Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; ND34510
Encyclopedic resources Wikidata; Q98127460
Entry history
Entry creation25-Feb-2019
Last entry update19-Dec-2024
Version number8