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Cellosaurus PPMI.I.1081.2 (CVCL_D5SD)

[Text version]
Cell line name PPMI.I.1081.2
Synonyms PPMI42072; PPMI_42072; CDIi036-A; FCDI_11319
Accession CVCL_D5SD
Resource Identification Initiative To cite this cell line use: PPMI.I.1081.2 (RRID:CVCL_D5SD)
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 SNCA + hyposmia.
Caution: The PPMI42072 and PPMI_42072 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; 11138; SNCA; Simple; p.Ala53Thr (c.157G>A); ClinVar=VCV000014007; Zygosity=Heterozygous (PPMI; PubMed=36950378).
Disease Parkinson disease 1, autosomal dominant (NCIt: C198602)
Hereditary late-onset Parkinson disease (ORDO: Orphanet_411602)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_D5SE (PPMI.I.1081.2.ISO.1)CVCL_D5SF (PPMI.I.1081.2.ISO.2)CVCL_D5SG (PPMI.I.1081.2.ISO.3)
Originate from same individual CVCL_D5SC ! PPMI.I.1081.1
CVCL_D5SH ! PPMI.I.1081.3
Sex of cell Female
Age at sampling 43Y
Category Induced pluripotent stem cell
Web pages https://www.ppmi-info.org/access-data-specimens/download-data

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)

Cell line databases/resources hPSCreg; CDIi036-A
Biological sample resources BioSamples; SAMEA115473806
Entry history
Entry creation02-May-2024
Last entry update02-May-2024
Version number1