Cellosaurus cell line PPMI.I.1074.1 (CVCL

Cellosaurus PPMI.I.1074.1 (CVCL_D5RU)

[Text version]

Cell line name

PPMI.I.1074.1

Synonyms

PPMI40760; PPMI_40760; CDIi101-A; FCDI_11556

Accession

CVCL_D5RU

Resource Identification Initiative

To cite this cell line use: PPMI.I.1074.1 (RRID:CVCL_D5RU)

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 SNCA.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.

Sequence variations

Mutation; HGNC; 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_D5RV (PPMI.I.1074.1.ISO.1)

CVCL_D5RW (PPMI.I.1074.1.ISO.2)

CVCL_D5RX (PPMI.I.1074.1.ISO.3)

Sex of cell

Female

Age at sampling

54Y

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.D., 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; CDIi101-A

Biological sample resources

BioSamples; SAMEA115473936

Encyclopedic resources

Wikidata; Q127383361

Entry history

Entry creation

02-May-2024

Last entry update

19-Dec-2024

Version number