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Cellosaurus NH50253 (CVCL_YQ44)

[Text version]
Cell line name NH50253
Accession CVCL_YQ44
Resource Identification Initiative To cite this cell line use: NH50253 (RRID:CVCL_YQ44)
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:3098; TOR1A; Simple; p.Glu303del (c.907_909delGAG); ClinVar=VCV000005180; Zygosity=Heterozygous (NHCDR=NH50253).
Disease Autosomal dominant torsion dystonia 1 (NCIt: C118780)
Early-onset generalized limb-onset dystonia (ORDO: Orphanet_256)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 49Y
Category Finite cell line
Cross-references
Cell line collections (Providers) NHCDR; NH50253
Encyclopedic resources Wikidata; Q98127709
Entry history
Entry creation12-Mar-2020
Last entry update19-Dec-2024
Version number9