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Cellosaurus ND40075 (CVCL_EZ51)

[Text version]
Cell line name ND40075
Accession CVCL_EZ51
Resource Identification Initiative To cite this cell line use: ND40075 (RRID:CVCL_EZ51)
Comments Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:20856; THAP1; Simple; p.Ile149Thr (c.446T>C); Zygosity=Heterozygous (NHCDR=ND40075).
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_UT54 ! ND34510
Sex of cell Male
Age at sampling 66Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; ND40075 - Discontinued
NHCDR; ND40075
Encyclopedic resources Wikidata; Q54930156
Entry history
Entry creation26-Sep-2016
Last entry update19-Dec-2024
Version number12