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Cellosaurus UOXFi001-D (CVCL_EE30)

[Text version]
Cell line name UOXFi001-D
Synonyms MK071-6; iPS.MK071.6
Accession CVCL_EE30
Resource Identification Initiative To cite this cell line use: UOXFi001-D (RRID:CVCL_EE30)
Comments From: University of Oxford; Oxford; United Kingdom.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 4177; GBA1; Simple; p.Asn409Ser (c.1226A>G) (N370S); ClinVar=VCV000004290; Zygosity=Heterozygous (EBiSC=UOXFi001-D).
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_A8Z6 (MK071)
Sex of cell Female
Age at sampling 81Y
Category Induced pluripotent stem cell
Cell line collections (Providers) EBiSC; UOXFi001-D - Discontinued
ECACC; 66540387 - Discontinued
Cell line databases/resources hPSCreg; UOXFi001-D
SKIP; SKIP002857
Biological sample resources BioSamples; SAMEA4454476
Encyclopedic resources Wikidata; Q54991435
Entry history
Entry creation13-Jul-2016
Last entry update30-Jan-2024
Version number15