Cellosaurus logo
expasy logo

Cellosaurus NH50187 (CVCL_UW89)

[Text version]
Cell line name NH50187
Accession CVCL_UW89
Resource Identification Initiative To cite this cell line use: NH50187 (RRID:CVCL_UW89)
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=Heterozygous (NHCDR=NH50187).
  • Mutation; HGNC; HGNC:4177; GBA1; Simple_corrected; p.Asn409Ser (c.1226A>G) (N370S); ClinVar=VCV000004290; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (NHCDR=NH50187).
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; NH50187
Encyclopedic resources Wikidata; Q98127628
Entry history
Entry creation25-Feb-2019
Last entry update19-Dec-2024
Version number11