ID   PPMI.I.1100.1
AC   CVCL_D5TX
SY   PPMI51971; PPMI_51971; CDIi056-A; FCDI_11353
DR   BioSamples; SAMEA115473846
DR   hPSCreg; CDIi056-A
DR   Wikidata; Q127383536
RX   PubMed=36950378;
WW   https://www.ppmi-info.org/access-data-specimens/download-data
WW   https://www.michaeljfox.org/sites/default/files/media/document/2018%20-%20PDTC%20-%20NKP%20Poster%20on%20iPSCs.pdf
CC   Part of: Parkinson's Progression Markers Initiative (PPMI) cell line panel.
CC   Population: Caucasian, not Hispanic.
CC   Sequence variation: Mutation; HGNC; 18618; LRRK2; Simple; p.Gly2019Ser (c.6055G>A); ClinVar=VCV000001940; Zygosity=Heterozygous (PubMed=36950378).
CC   Omics: Genome sequenced.
CC   Omics: Transcriptome analysis by RNAseq.
CC   Miscellaneous: PPMI study cohort PD, PPMI study subgroup LRRK2.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C198605; Parkinson disease 8, autosomal dominant
DI   ORDO; Orphanet_411602; Hereditary late-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   65-69Y
CA   Induced pluripotent stem cell
DT   Created: 02-05-24; Last updated: 10-09-24; Version: 2
//
RX   PubMed=36950378; DOI=10.1016/j.xgen.2023.100261; PMCID=PMC10025424;
RA   Bressan E., Reed X., Bansal V., Hutchins E., Cobb M.M., Webb M.G.,
RA   Alsop E., Grenn F.P., Illarionova A., Savytska N., Violich I.,
RA   Broeer S., Fernandes N., Sivakumar R., Beilina A., Billingsley K.J.,
RA   Berghausen J., Pantazis C.B., Pitz V., Patel D., Daida K.,
RA   Meechoovet B., Reiman R., Courtright-Lim A., Logemann A., Antone J.,
RA   Barch M., Kitchen R., Li Y., Dalgard C.L., Rizzu P., Hernandez D.G.,
RA   Hjelm B.E., Nalls M.A., Gibbs J.R., Finkbeiner S., Cookson M.R.,
RA   Van Keuren-Jensen K., Craig D.W., Singleton A.B., Heutink P.,
RA   Blauwendraat C.;
RG   American Genome Center;
RT   "The Foundational Data Initiative for Parkinson Disease: enabling
RT   efficient translation from genetic maps to mechanism.";
RL   Cell Genom. 3:100261.1-100261.25(2023).
//