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Cellosaurus NH50125 (CVCL_UY42)

[Text version]
Cell line name NH50125
Accession CVCL_UY42
Resource Identification Initiative To cite this cell line use: NH50125 (RRID:CVCL_UY42)
Comments Population: African American.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:801; ATP1A3; Simple; p.Glu277Lys (c.829G>A); ClinVar=VCV000012911; Zygosity=Heterozygous; Note=De novo mutation (NHCDR=NH50125).
Disease Dystonia 12 (NCIt: C157577)
Rapid-onset dystonia-parkinsonism (ORDO: Orphanet_71517)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 36Y
Category Finite cell line
Cross-references
Cell line collections (Providers) NHCDR; NH50125
Encyclopedic resources Wikidata; Q98127545
Entry history
Entry creation25-Feb-2019
Last entry update19-Dec-2024
Version number11