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Cellosaurus ND50044 (CVCL_RH38)

[Text version]
Cell line name ND50044
Accession CVCL_RH38
Resource Identification Initiative To cite this cell line use: ND50044 (RRID:CVCL_RH38)
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.Glu365Lys (c.1093G>A) (E326K); ClinVar=VCV000199044; Zygosity=Heterozygous (from parent cell line).
Disease Parkinson's disease (NCIt: C26845)
Hereditary late-onset Parkinson disease (ORDO: Orphanet_411602)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_EZ70 (ND41015)
Sex of cell Male
Age at sampling 63Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) NHCDR; ND50044
Cell line databases/resources SKIP; SKIP001651
Encyclopedic resources Wikidata; Q54930266
Entry history
Entry creation05-Mar-2018
Last entry update19-Dec-2024
Version number12