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Cellosaurus NH50142 (CVCL_UW93)

[Text version]
Cell line name NH50142
Accession CVCL_UW93
Resource Identification Initiative To cite this cell line use: NH50142 (RRID:CVCL_UW93)
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:4177; GBA1; Simple_corrected; p.Glu365Lys (c.1093G>A) (E326K); ClinVar=VCV000199044; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (NHCDR=NH50142).
Disease Parkinson disease (NCIt: C26845)
Hereditary late-onset Parkinson disease (ORDO: Orphanet_411602)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_RH37 (ND50043)
Sex of cell Male
Age at sampling 63Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) NHCDR; NH50142
Encyclopedic resources Wikidata; Q98127566
Entry history
Entry creation25-Feb-2019
Last entry update10-Apr-2025
Version number11