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Cellosaurus NH50188 (CVCL_UW90)

[Text version]
Cell line name NH50188
Accession CVCL_UW90
Resource Identification Initiative To cite this cell line use: NH50188 (RRID:CVCL_UW90)
Comments Population: Caucasian.
Characteristics: Non-edited control for NH50186 (Cellosaurus=CVCL_UW88) and NH50187 (Cellosaurus=CVCL_UW89).
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 4177; GBA1; Simple; p.Asn409Ser (c.1226A>G) (N370S); ClinVar=VCV000004290; Zygosity=Homozygous (NHCDR=NH50188).
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_UW86 (NH50182)
Sex of cell Male
Age at sampling 65Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) NHCDR; NH50188
Encyclopedic resources Wikidata; Q98127629
Entry history
Entry creation25-Feb-2019
Last entry update30-Jan-2024
Version number10