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Cellosaurus PPMI.I.1093.1.ISO.1 (CVCL_D5TF)

[Text version]
Cell line name PPMI.I.1093.1.ISO.1
Accession CVCL_D5TF
Resource Identification Initiative To cite this cell line use: PPMI.I.1093.1.ISO.1 (RRID:CVCL_D5TF)
Comments Part of: Parkinson's Progression Markers Initiative (PPMI) cell line panel.
Population: Caucasian, not Hispanic.
Omics: Genome sequenced.
Miscellaneous: PPMI study cohort PD, PPMI study subgroup LRRK2.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 18618; LRRK2; Simple_corrected; p.Gly2019Ser (c.6055G>A); ClinVar=VCV000001940; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PPMI).
Disease Parkinson disease 8, autosomal dominant (NCIt: C198605)
Hereditary late-onset Parkinson disease (ORDO: Orphanet_411602)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_D5TE (PPMI.I.1093.1)
Sex of cell Female
Age at sampling 60-64Y
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; Q127383497
Entry history
Entry creation02-May-2024
Last entry update10-Sep-2024
Version number2