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Cellosaurus PPMI.I.1111.3.ISO.1 (CVCL_D5UM)

[Text version]
Cell line name PPMI.I.1111.3.ISO.1
Accession CVCL_D5UM
Resource Identification Initiative To cite this cell line use: PPMI.I.1111.3.ISO.1 (RRID:CVCL_D5UM)
Comments Part of: Parkinson's Progression Markers Initiative (PPMI) cell line panel.
Population: Caucasian, not Hispanic.
Omics: Genome sequenced.
Donor information: At sampling established from a patient at the prodromal stage of Parkinson disease.
Miscellaneous: PPMI study cohort prodromal, PPMI study subgroup GBA.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 4177; GBA1; Simple_corrected; p.Asn409Ser (c.1226A>G) (N370S); ClinVar=VCV000004290; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PPMI).
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_D5UL (PPMI.I.1111.3)
Sex of cell Female
Age at sampling 75Y
Category Induced pluripotent stem cell
Web pages https://www.ppmi-info.org/access-data-specimens/download-data
https://www.michaeljfox.org/sites/default/files/media/document/2018%20-%20PDTC%20-%20NKP%20Poster%20on%20iPSCs.pdf
Cross-references
Encyclopedic resources Wikidata; Q127383589
Entry history
Entry creation02-May-2024
Last entry update10-Sep-2024
Version number2