ID   PPMI.I.1133.1
AC   CVCL_D5W2
SY   PPMI56680; PPMI_56680; CDIi076-A; FCDI_11465
DR   BioSamples; SAMEA115473886
DR   hPSCreg; CDIi076-A
DR   Wikidata; Q127383698
RX   PubMed=34434090;
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; 4177; GBA1; Simple; p.Asn409Ser (c.1226A>G) (N370S); ClinVar=VCV000004290; Zygosity=Heterozygous (PubMed=36950378).
CC   Omics: Genome sequenced.
CC   Omics: Transcriptome analysis by 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 PPMI56680 and PPMI_56680 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's disease
DI   ORDO; Orphanet_411602; Hereditary late-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_D5W3 ! PPMI.I.1133.2
OI   CVCL_D5W4 ! PPMI.I.1133.3
SX   Male
AG   66Y
CA   Induced pluripotent stem cell
DT   Created: 02-05-24; Last updated: 10-09-24; Version: 2
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RX   PubMed=34434090; DOI=10.3389/fnmol.2021.734273; PMCID=PMC8381147;
RA   Nguyen D., Bharat V., Conradson D.M., Nandakishore P., Wang X.-N.;
RT   "Miro1 impairment in a Parkinson's at-risk cohort.";
RL   Front. Mol. Neurosci. 14:734273.1-734273.8(2021).
//
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).
//