ID   PPMI.I.1081.1
AC   CVCL_D5SC
SY   PPMI42072; PPMI_42072; CDIi036-A; FCDI_11319
DR   BioSamples; SAMEA115473806
DR   hPSCreg; CDIi036-A
RX   PubMed=34434090;
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).
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_D5SD ! PPMI.I.1081.2
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=34434090; DOI=10.3389/fnmol.2021.734273;
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).
//