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Cellosaurus PPMI.I.1086.1 (CVCL_D5SV)

[Text version]
Cell line name PPMI.I.1086.1
Synonyms PPMI50184; PPMI_50184; CDIi044-A; FCDI_11334
Accession CVCL_D5SV
Resource Identification Initiative To cite this cell line use: PPMI.I.1086.1 (RRID:CVCL_D5SV)
Comments Part of: Parkinson's Progression Marker Initiative (PPMI) cell line panel.
Population: Caucasian, not Hispanic.
Donor information: At sampling established from a patient at the prodromal stage of Parkinson disease.
Miscellaneous: PPMI study cohort prodromal, PPMI study subgroup LRRK2.
Caution: The PPMI50184 and PPMI_50184 identifiers correspond to an internal donor ID at PPMI. As multiple iPSC clones have been established from the cells of this donor, these identifiers should not be cited in a publication. Note that FujiFilm Cellular Dynamics, Inc (FCDI) and hPSCreg have assigned only a single identifier for all of the PBMC derived clones.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 18618; LRRK2; Simple; p.Gly2019Ser (c.6055G>A); ClinVar=VCV000001940; Zygosity=Heterozygous (from autologous cell line PPMI.I.1086.2).
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)
Originate from same individual CVCL_D5SW ! PPMI.I.1086.2
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
Cell line databases/resources hPSCreg; CDIi044-A
Biological sample resources BioSamples; SAMEA115473822
Entry history
Entry creation02-May-2024
Last entry update02-May-2024
Version number1