ID   PPMI.I.1081.2
AC   CVCL_D5SD
SY   PPMI42072; PPMI_42072; CDIi036-A; FCDI_11319
DR   BioSamples; SAMEA115473806
DR   hPSCreg; CDIi036-A
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 Marker Initiative (PPMI) cell line panel.
CC   Population: Caucasian, not Hispanic.
CC   Sequence variation: Mutation; HGNC; 11138; SNCA; Simple; p.Ala53Thr (c.157G>A); ClinVar=VCV000014007; Zygosity=Heterozygous (PPMI; PubMed=36950378).
CC   Omics: Genome sequenced.
CC   Omics: Transcriptome analysis by RNAseq.
CC   Donor information: At sampling donor was not affected with Parkinson disease but at risk for disease. Was suffering from hyposmia.
CC   Miscellaneous: PPMI study cohort prodromal, PPMI study subgroup SNCA + hyposmia.
CC   Caution: The PPMI42072 and PPMI_42072 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; C198602; Parkinson disease 1, autosomal dominant
DI   ORDO; Orphanet_411602; Hereditary late-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_D5SC ! PPMI.I.1081.1
OI   CVCL_D5SH ! PPMI.I.1081.3
SX   Female
AG   43Y
CA   Induced pluripotent stem cell
DT   Created: 02-05-24; Last updated: 02-05-24; Version: 1
//
RX   PubMed=36950378; DOI=10.1016/j.xgen.2023.100261;
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.;
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).
//