ID   PPMI.I.1118.3
AC   CVCL_D5V5
SY   PPMI53988; PPMI_53988; CDIi095-A; FCDI_11512
DR   BioSamples; SAMEA115473924
DR   hPSCreg; CDIi095-A
DR   Wikidata; Q127383627
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 (PPMI; 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 PPMI53988 and PPMI_53988 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_D5V3 ! PPMI.I.1118.1
OI   CVCL_D5V4 ! PPMI.I.1118.2
SX   Male
AG   57Y
CA   Induced pluripotent stem cell
DT   Created: 02-05-24; Last updated: 10-04-25; Version: 4
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RX   PubMed=36950378; DOI=10.1016/j.xgen.2023.100261; PMCID=PMC10025424;
RA   Bressan E., Reed X., Bansal V., Hutchins E.D., 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).
//