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Cellosaurus NH50233 (CVCL_YQ24)

[Text version]
Cell line name NH50233
Accession CVCL_YQ24
Resource Identification Initiative To cite this cell line use: NH50233 (RRID:CVCL_YQ24)
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:8607; PRKN; Simple; p.Arg42Pro (c.125G>C); ClinVar=VCV000644125; Zygosity=Heterozygous (NHCDR=NH50233).
  • Mutation; HGNC; HGNC:8607; PRKN; Unexplicit; Ex3del; Zygosity=Heterozygous (NHCDR=NH50233).
Disease Parkinson disease 2, autosomal recessive juvenile (NCIt: C198603)
Young-onset Parkinson disease (ORDO: Orphanet_2828)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_DD47 (ND30171)
Sex of cell Male
Age at sampling 54Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) NHCDR; NH50233
Encyclopedic resources Wikidata; Q98127684
Entry history
Entry creation12-Mar-2020
Last entry update19-Dec-2024
Version number10