Cellosaurus logo
expasy logo

Cellosaurus NH50289 (CVCL_YU01)

[Text][XML][JSON]
Cell line name NH50289
Accession CVCL_YU01
Resource Identification Initiative To cite this cell line use: NH50289 (RRID:CVCL_YU01)
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.Arg245Lys (c.734G>A); Zygosity=Heterozygous (NHCDR=NH50289).
  • Mutation; HGNC; HGNC:8607; PRKN; Simple; p.Gly430Asp (c.1289G>A); ClinVar=VCV000356016; Zygosity=Heterozygous (NHCDR=NH50289).
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)
Sex of cell Male
Age at sampling 38Y
Category Finite cell line
Cross-references
Cell line collections (Providers) NHCDR; NH50289
Encyclopedic resources Wikidata; Q98127753
Entry history
Entry creation12-Mar-2020
Last entry update19-Dec-2024
Version number9