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Cellosaurus PPMI.I.1105.2 (CVCL_D5U6)

[Text version]
Cell line name PPMI.I.1105.2
Synonyms PPMI52524; PPMI_52524; CDIi083-A; FCDI_11478
Accession CVCL_D5U6
Resource Identification Initiative To cite this cell line use: PPMI.I.1105.2 (RRID:CVCL_D5U6)
Comments Part of: Parkinson's Progression Markers Initiative (PPMI) cell line panel.
Population: Caucasian, not Hispanic.
Omics: Genome sequenced.
Omics: Transcriptome analysis by RNAseq.
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 PPMI52524 and PPMI_52524 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 (PPMI; PubMed=36950378).
Disease Parkinson's disease (NCIt: C26845)
Hereditary late-onset Parkinson disease (ORDO: Orphanet_411602)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_D5U7 (PPMI.I.1105.2.ISO.1)CVCL_D5U8 (PPMI.I.1105.2.ISO.2)
Originate from same individual CVCL_D5U5 ! PPMI.I.1105.1
Sex of cell Male
Age at sampling 72Y
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=36950378; DOI=10.1016/j.xgen.2023.100261; PMCID=PMC10025424
Bressan E., Reed X., Bansal V., Hutchins E., Cobb M.M., Webb M.G., Alsop E., Grenn F.P., Illarionova A., Savytska N., Violich I., Broeer S., Fernandes N., Sivakumar R., Beilina A., Billingsley K.J., Berghausen J., Pantazis C.B., Pitz V., Patel D., Daida K., Meechoovet B., Reiman R., Courtright-Lim A., Logemann A., Antone J., Barch M., Kitchen R., Li Y., Dalgard C.L., Rizzu P., Hernandez D.G., Hjelm B.E., Nalls M.A., Gibbs J.R., Finkbeiner S., Cookson M.R., Van Keuren-Jensen K., Craig D.W., Singleton A.B., Heutink P., Blauwendraat C.
American Genome Center
The Foundational Data Initiative for Parkinson Disease: enabling efficient translation from genetic maps to mechanism.
Cell Genom. 3:100261.1-100261.25(2023)

Cross-references
Cell line databases/resources hPSCreg; CDIi083-A
Biological sample resources BioSamples; SAMEA115473900
Encyclopedic resources Wikidata; Q127383556
Entry history
Entry creation02-May-2024
Last entry update10-Sep-2024
Version number2