ID   PPMI.I.1130.2
AC   CVCL_D5VV
SY   PPMI56435; PPMI_56435; CDIi041-A; FCDI_11328
DR   BioSamples; SAMEA115473816
DR   hPSCreg; CDIi041-A
DR   Wikidata; Q127383683
RX   PubMed=36950378;
WW   Info; PPMI; -; https://www.michaeljfox.org/sites/default/files/media/document/2018%20-%20PDTC%20-%20NKP%20Poster%20on%20iPSCs.pdf
WW   Info; PPMI; -; https://www.ppmi-info.org/access-data-specimens/download-data
CC   Part of: Parkinson's Progression Markers Initiative (PPMI) cell line panel.
CC   Population: Caucasian, not Hispanic.
CC   Sequence variation: Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Asn409Ser (c.1226A>G) (N370S); ClinVar=VCV000004290; Zygosity=Heterozygous (PubMed=36950378).
CC   Omics: Genomics; Whole genome sequencing.
CC   Omics: Transcriptomics; RNAseq.
CC   Miscellaneous: PPMI study cohort PD, PPMI study subgroup GBA.
CC   Caution: The PPMI56435 and PPMI_56435 identifiers correspond to an internal donor ID at PPMI. As multiple iPSC clones have been established from the cells of this donor, these identifiers should not be cited in a publication. Note that FujiFilm Cellular Dynamics, Inc (FCDI) and hPSCreg have assigned only a single identifier for all of the PBMC derived clones.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C26845; Parkinson disease
DI   ORDO; Orphanet_411602; Hereditary late-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_D5VU ! PPMI.I.1130.1
OI   CVCL_D5VW ! PPMI.I.1130.3
SX   Male
AG   61Y
CA   Induced pluripotent stem cell
DT   Created: 02-05-24; Last updated: 10-04-25; Version: 4
//
RX   PubMed=36950378; DOI=10.1016/j.xgen.2023.100261; PMCID=PMC10025424;
RA   Bressan, Elisangela
RA   Reed, Xylena
RA   Bansal, Vikas
RA   Hutchins, Elizabeth D.
RA   Cobb, Melanie M.
RA   Webb, Michelle G.
RA   Alsop, Eric
RA   Grenn, Francis P.
RA   Illarionova, Anastasia
RA   Savytska, Natalia
RA   Violich, Ivo
RA   Broeer, Stefanie
RA   Fernandes, Noemia
RA   Sivakumar, Ramiyapriya
RA   Beilina, Aleksandra
RA   Billingsley, Kimberley J.
RA   Berghausen, Joos
RA   Pantazis, Caroline B.
RA   Pitz, Vanessa
RA   Patel, Dhairya
RA   Daida, Kensuke
RA   Meechoovet, Bessie
RA   Reiman, Rebecca
RA   Courtright-Lim, Amanda
RA   Logemann, Amber
RA   Antone, Jerry
RA   Barch, Mariya
RA   Kitchen, Robert
RA   Li, Yan
RA   Dalgard, Clifton Lee
RA   Rizzu, Patrizia
RA   Hernandez, Dena Godwin
RA   Hjelm, Brooke E.
RA   Nalls, Mike A.
RA   Gibbs, J. Raphael
RA   Finkbeiner, Steven
RA   Cookson, Mark R.
RA   Van Keuren-Jensen, Kendall
RA   Craig, David Wesley
RA   Singleton, Andrew B.
RA   Heutink, Peter
RA   Blauwendraat, Cornelis
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).
//