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Cellosaurus PPMI.I.1078.3 (CVCL_D5S7)

[Text version]
Cell line name PPMI.I.1078.3
Synonyms PPMI41486; PPMI_41486; CDIi042-A; FCDI_11329
Accession CVCL_D5S7
Resource Identification Initiative To cite this cell line use: PPMI.I.1078.3 (RRID:CVCL_D5S7)
Comments Part of: Parkinson's Progression Marker Initiative (PPMI) cell line panel.
Population: Caucasian, not Hispanic.
Miscellaneous: PPMI study cohort PD, PPMI study subgroup LRRK2.
Caution: The PPMI41486 and PPMI_41486 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.1078.2).
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_D5S5 ! PPMI.I.1078.1
CVCL_D5S6 ! PPMI.I.1078.2
Sex of cell Male
Age at sampling 65Y
Category Induced pluripotent stem cell
Web pages https://www.ppmi-info.org/access-data-specimens/download-data
Cell line databases/resources hPSCreg; CDIi042-A
Biological sample resources BioSamples; SAMEA115473818
Entry history
Entry creation02-May-2024
Last entry update02-May-2024
Version number1