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Cellosaurus PPMI.I.1129.1 (CVCL_D5VT)

[Text version]
Cell line name PPMI.I.1129.1
Synonyms PPMI56169; PPMI_56169; CDIi092-A; FCDI_11500
Accession CVCL_D5VT
Resource Identification Initiative To cite this cell line use: PPMI.I.1129.1 (RRID:CVCL_D5VT)
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 LRRK2.
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 (PubMed=36950378).
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)
Sex of cell Female
Age at sampling 79Y
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)

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; CDIi092-A
Biological sample resources BioSamples; SAMEA115473918
Encyclopedic resources Wikidata; Q127383679
Entry history
Entry creation02-May-2024
Last entry update10-Sep-2024
Version number2