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Cellosaurus PPMI.I.1104.1 (CVCL_D5U3)

[Text version]
Cell line name PPMI.I.1104.1
Synonyms PPMI52517; PPMI_52517; CDIi094-A; FCDI_11508
Accession CVCL_D5U3
Resource Identification Initiative To cite this cell line use: PPMI.I.1104.1 (RRID:CVCL_D5U3)
Comments Part of: Parkinson's Progression Markers 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 GBA.
Caution: The PPMI52517 and PPMI_52517 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.Asn409Ser (c.1226A>G) (N370S); ClinVar=VCV000004290; Zygosity=Heterozygous (from autologous cell line PPMI.I.1104.2).
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_D5U4 ! PPMI.I.1104.2
Sex of cell Female
Age at sampling 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
Publications

PubMed=34434090; DOI=10.3389/fnmol.2021.734273; PMCID=PMC8381147
Nguyen D., Bharat V., Conradson D.M., Nandakishore P., Wang X.-N.
Miro1 impairment in a Parkinson's at-risk cohort.
Front. Mol. Neurosci. 14:734273.1-734273.8(2021)

Cross-references
Cell line databases/resources hPSCreg; CDIi094-A
Biological sample resources BioSamples; SAMEA115473922
Encyclopedic resources Wikidata; Q127383549
Entry history
Entry creation02-May-2024
Last entry update10-Sep-2024
Version number2