Cellosaurus cell line PPMI.I.1126.1 (CVCL

Cellosaurus PPMI.I.1126.1 (CVCL_D5VP)

Cross-references
Cell line name	PPMI.I.1126.1
Synonyms	PPMI55251; PPMI_55251; CDIi060-A; FCDI_11370
Accession	CVCL_D5VP
Resource Identification Initiative	To cite this cell line use: PPMI.I.1126.1 (RRID:CVCL_D5VP)
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 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	Male
Age at sampling	60Y
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; CDIi060-A
Biological sample resources	BioSamples; SAMEA115473854
Encyclopedic resources	Wikidata; Q127383669
Entry history
Entry creation	02-May-2024
Last entry update	19-Dec-2024
Version number	3