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Cellosaurus UMi036-A (CVCL_C0Z1)

[Text version]
Cell line name UMi036-A
Accession CVCL_C0Z1
Resource Identification Initiative To cite this cell line use: UMi036-A (RRID:CVCL_C0Z1)
Comments From: Miller School of Medicine, University of Miami; Miami; USA.
Population: Caucasian.
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 (from parent cell line).
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 databases/resources hPSCreg; UMi036-A
Biological sample resources BioSamples; SAMEA112445420
Encyclopedic resources Wikidata; Q114313195
Entry history
Entry creation22-Sep-2022
Last entry update05-Oct-2023
Version number4