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Cellosaurus NH50183 (CVCL_UW87)

[Text version]
Cell line name NH50183
Accession CVCL_UW87
Resource Identification Initiative To cite this cell line use: NH50183 (RRID:CVCL_UW87)
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; p.Asn409Ser (c.1226A>G) (N370S); ClinVar=VCV000004290; Zygosity=Homozygous (NHCDR=NH50183).
Disease Gaucher disease (NCIt: C61268)
Parkinson's disease (NCIt: C26845)
Gaucher disease (ORDO: Orphanet_355)
Hereditary late-onset Parkinson disease (ORDO: Orphanet_411602)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_EY99 (ND34263)
Sex of cell Male
Age at sampling 65Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) NHCDR; NH50183
Encyclopedic resources Wikidata; Q98127622
Entry history
Entry creation25-Feb-2019
Last entry update19-Dec-2024
Version number11