Cellosaurus cell line PPMI.I.1125.1 (CVCL

Cellosaurus PPMI.I.1125.1 (CVCL_D5VK)

[Text version]

Cell line name

PPMI.I.1125.1

Synonyms

PPMI55124

Accession

CVCL_D5VK

Resource Identification Initiative

To cite this cell line use: PPMI.I.1125.1 (RRID:CVCL_D5VK)

Comments

Part of: Parkinson's Progression Markers Initiative (PPMI) cell line panel.
Population: Caucasian, not Hispanic.
Omics: Genomics; Whole genome sequencing.
Omics: Transcriptomics; RNAseq.
Miscellaneous: PPMI study cohort PD, PPMI study subgroup GBA.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.

Sequence variations

Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Asn409Ser (c.1226A>G) (N370S); ClinVar=VCV000004290; Zygosity=Heterozygous (PPMI; PubMed=36950378).

Disease

Parkinson disease (NCIt: C26845)
Hereditary late-onset Parkinson disease (ORDO: Orphanet_411602)

Species of origin

Homo sapiens (Human) (NCBI Taxonomy: 9606)

Hierarchy

Children:

CVCL_D5VL (PPMI.I.1125.1.ISO.1)

CVCL_D5VM (PPMI.I.1125.1.ISO.2)

CVCL_D5VN (PPMI.I.1125.1.ISO.3)

Sex of cell

Female

Age at sampling

60Y

Category

Induced pluripotent stem cell

Web pages

Info; PPMI; -; https://www.michaeljfox.org/sites/default/files/media/document/2018%20-%20PDTC%20-%20NKP%20Poster%20on%20iPSCs.pdf
Info; PPMI; -; https://www.ppmi-info.org/access-data-specimens/download-data

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

Encyclopedic resources

Wikidata; Q127383659

Entry history

Entry creation

02-May-2024

Last entry update

10-Apr-2025

Version number