Cellosaurus logo
expasy logo

Cellosaurus PPMI.I.1123.1 (CVCL_D5VH)

[Text version]
Cell line name PPMI.I.1123.1
Synonyms PPMI54908; PPMI_54908; CDIi074-A; FCDI_11462
Accession CVCL_D5VH
Resource Identification Initiative To cite this cell line use: PPMI.I.1123.1 (RRID:CVCL_D5VH)
Comments Part of: Parkinson's Progression Marker Initiative (PPMI) cell line panel.
Population: Caucasian, not Hispanic.
Omics: Genome sequenced.
Omics: Transcriptome analysis by RNAseq.
Donor information: At sampling donor was not affected with Parkinson disease but at risk for disease. Was suffering from hyposmia.
Miscellaneous: PPMI study cohort prodromal, PPMI study subgroup GBA + hyposmia.
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)
Sex of cell Female
Age at sampling 65Y
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
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
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.
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; CDIi074-A
Biological sample resources BioSamples; SAMEA115473882
Entry history
Entry creation02-May-2024
Last entry update02-May-2024
Version number1