Cellosaurus cell line PPMI.I.1129.1 (CVCL

Cellosaurus PPMI.I.1129.1 (CVCL_D5VT)

Cross-references
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; 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.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)
Cell line databases/resources	hPSCreg; CDIi092-A
Biological sample resources	BioSamples; SAMEA115473918
Encyclopedic resources	Wikidata; Q127383679
Entry history
Entry creation	02-May-2024
Last entry update	19-Dec-2024
Version number	3