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Cellosaurus NH50198 (CVCL_YP36)

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Cell line name NH50198
Accession CVCL_YP36
Resource Identification Initiative To cite this cell line use: NH50198 (RRID:CVCL_YP36)
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:9438; PRKRA; Simple; p.Cys213Arg (c.637T>C); ClinVar=VCV000689778; Zygosity=Heterozygous (NHCDR=NH50198).
  • Mutation; HGNC; HGNC:9438; PRKRA; Simple; p.Pro222Leu (c.665C>T); ClinVar=VCV000006346; Zygosity=Heterozygous (NHCDR=NH50198).
Disease Dystonia 16 (NCIt: C168729)
Dystonia 16 (ORDO: Orphanet_210571)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 18Y
Category Finite cell line
Cross-references
Cell line collections (Providers) NHCDR; NH50198
Encyclopedic resources Wikidata; Q98127642
Entry history
Entry creation12-Mar-2020
Last entry update19-Dec-2024
Version number9