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Cellosaurus PPMI.I.1113.2 (CVCL_D5US)

[Text version]
Cell line name PPMI.I.1113.2
Synonyms PPMI53339; PPMI_53339; CDIi038-A; FCDI_11323
Accession CVCL_D5US
Resource Identification Initiative To cite this cell line use: PPMI.I.1113.2 (RRID:CVCL_D5US)
Comments Part of: Parkinson's Progression Markers Initiative (PPMI) cell line panel.
Population: Caucasian, not Hispanic.
Omics: Genome sequenced.
Omics: Transcriptome analysis by RNAseq.
Miscellaneous: PPMI study cohort PD, PPMI study subgroup GBA.
Caution: The PPMI53339 and PPMI_53339 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 (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)
Originate from same individual CVCL_D5UR ! PPMI.I.1113.1
CVCL_D5UT ! PPMI.I.1113.3
Sex of cell Female
Age at sampling 57Y
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; CDIi038-A
Biological sample resources BioSamples; SAMEA115473810
Encyclopedic resources Wikidata; Q127383600
Entry history
Entry creation02-May-2024
Last entry update10-Sep-2024
Version number2