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Cellosaurus PPMI.I.1043.2 (CVCL_D5PN)

[Text version]
Cell line name PPMI.I.1043.2
Synonyms PPMI3954; PPMI_3954; CDIi085-A; FCDI_11484
Accession CVCL_D5PN
Resource Identification Initiative To cite this cell line use: PPMI.I.1043.2 (RRID:CVCL_D5PN)
Comments Part of: Parkinson's Progression Marker Initiative (PPMI) cell line panel.
Population: Caucasian, not Hispanic.
Miscellaneous: PPMI study cohort PD, PPMI study subgroup sporadic.
Caution: The PPMI3954 and PPMI_3954 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; 4177; GBA1; Simple; p.Glu365Lys (c.1093G>A) (E326K); ClinVar=VCV000199044; Zygosity=Heterozygous (from autologous cell line PPMI.I.1043.1).
Disease Parkinson's disease (NCIt: C26845)
Hereditary late-onset Parkinson disease (ORDO: Orphanet_411602)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_D5PM ! PPMI.I.1043.1
Sex of cell Female
Age at sampling 65-69Y
Category Induced pluripotent stem cell
Web pages https://www.ppmi-info.org/access-data-specimens/download-data
Cell line databases/resources hPSCreg; CDIi085-A
Biological sample resources BioSamples; SAMEA115473904
Entry history
Entry creation02-May-2024
Last entry update02-May-2024
Version number1