TY - JOUR
T1 - The Foundational Data Initiative for Parkinson Disease
T2 - Enabling efficient translation from genetic maps to mechanism
AU - The American Genome Center
AU - Bressan, Elisangela
AU - Reed, Xylena
AU - Bansal, Vikas
AU - Hutchins, Elizabeth
AU - Cobb, Melanie M.
AU - Webb, Michelle G.
AU - Alsop, Eric
AU - Grenn, Francis P.
AU - Illarionova, Anastasia
AU - Savytska, Natalia
AU - Violich, Ivo
AU - Broeer, Stefanie
AU - Fernandes, Noémia
AU - Sivakumar, Ramiyapriya
AU - Beilina, Alexandra
AU - Billingsley, Kimberley J.
AU - Berghausen, Joos
AU - Pantazis, Caroline B.
AU - Pitz, Vanessa
AU - Patel, Dhairya
AU - Daida, Kensuke
AU - Meechoovet, Bessie
AU - Reiman, Rebecca
AU - Courtright-Lim, Amanda
AU - Logemann, Amber
AU - Antone, Jerry
AU - Barch, Mariya
AU - Kitchen, Robert
AU - Li, Yan
AU - Dalgard, Clifton L.
AU - Rizzu, Patrizia
AU - Hernandez, Dena G.
AU - Hjelm, Brooke E.
AU - Nalls, Mike
AU - Gibbs, J. Raphael
AU - Finkbeiner, Steven
AU - Cookson, Mark R.
AU - Van Keuren-Jensen, Kendall
AU - Craig, David W.
AU - Singleton, Andrew B.
AU - Heutink, Peter
AU - Blauwendraat, Cornelis
N1 - Publisher Copyright:
© 2023
PY - 2023/3/8
Y1 - 2023/3/8
N2 - The Foundational Data Initiative for Parkinson Disease (FOUNDIN-PD) is an international collaboration producing fundamental resources for Parkinson disease (PD). FOUNDIN-PD generated a multi-layered molecular dataset in a cohort of induced pluripotent stem cell (iPSC) lines differentiated to dopaminergic (DA) neurons, a major affected cell type in PD. The lines were derived from the Parkinson's Progression Markers Initiative study, which included participants with PD carrying monogenic PD variants, variants with intermediate effects, and variants identified by genome-wide association studies and unaffected individuals. We generated genetic, epigenetic, regulatory, transcriptomic, and longitudinal cellular imaging data from iPSC-derived DA neurons to understand molecular relationships between disease-associated genetic variation and proximate molecular events. These data reveal that iPSC-derived DA neurons provide a valuable cellular context and foundational atlas for modeling PD genetic risk. We have integrated these data into a FOUNDIN-PD data browser as a resource for understanding the molecular pathogenesis of PD.
AB - The Foundational Data Initiative for Parkinson Disease (FOUNDIN-PD) is an international collaboration producing fundamental resources for Parkinson disease (PD). FOUNDIN-PD generated a multi-layered molecular dataset in a cohort of induced pluripotent stem cell (iPSC) lines differentiated to dopaminergic (DA) neurons, a major affected cell type in PD. The lines were derived from the Parkinson's Progression Markers Initiative study, which included participants with PD carrying monogenic PD variants, variants with intermediate effects, and variants identified by genome-wide association studies and unaffected individuals. We generated genetic, epigenetic, regulatory, transcriptomic, and longitudinal cellular imaging data from iPSC-derived DA neurons to understand molecular relationships between disease-associated genetic variation and proximate molecular events. These data reveal that iPSC-derived DA neurons provide a valuable cellular context and foundational atlas for modeling PD genetic risk. We have integrated these data into a FOUNDIN-PD data browser as a resource for understanding the molecular pathogenesis of PD.
KW - Parkinson disease
KW - dopaminergic neurons
KW - genetic risk
KW - induced pluripotent stem cell
KW - omics single-cell RNA sequencing single-cell ATAC sequencing SNCA LRRK2 GBA1
UR - http://www.scopus.com/inward/record.url?scp=85149670714&partnerID=8YFLogxK
U2 - 10.1016/j.xgen.2023.100261
DO - 10.1016/j.xgen.2023.100261
M3 - Article
AN - SCOPUS:85149670714
SN - 2666-979X
VL - 3
JO - Cell Genomics
JF - Cell Genomics
IS - 3
M1 - 100261
ER -