ID   PPMI.I.1121.1
AC   CVCL_D5VC
SY   PPMI54262; PPMI_54262; CDIi043-A; FCDI_11331
DR   BioSamples; SAMEA115473820
DR   hPSCreg; CDIi043-A
DR   Wikidata; Q127383643
RX   PubMed=34434090;
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   Donor information: At sampling established from a patient at the prodromal stage of Parkinson disease.
CC   Miscellaneous: PPMI study cohort prodromal, PPMI study subgroup GBA.
CC   Caution: The PPMI54262 and PPMI_54262 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_D5VD ! PPMI.I.1121.2
OI   CVCL_D5VE ! PPMI.I.1121.3
SX   Male
AG   71Y
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).
//
RX   PubMed=34434090; DOI=10.3389/fnmol.2021.734273; PMCID=PMC8381147;
RA   Nguyen, David
RA   Bharat, Vinita
RA   Conradson, Devon M.
RA   Nandakishore, Pawan
RA   Wang, Xin-Nan
RT   "Miro1 impairment in a Parkinson's at-risk cohort.";
RL   Front. Mol. Neurosci. 14:734273.1-734273.8(2021).
//