ID   PPMI.I.1130.1
AC   CVCL_D5VU
SY   PPMI56435; PPMI_56435; CDIi041-A; FCDI_11328
DR   BioSamples; SAMEA115473816
DR   hPSCreg; CDIi041-A
DR   Wikidata; Q127383681
RX   PubMed=34434090;
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 (from autologous cell line PPMI.I.1130.2).
CC   Miscellaneous: PPMI study cohort PD, PPMI study subgroup GBA.
CC   Caution: The PPMI56435 and PPMI_56435 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_D5VV ! PPMI.I.1130.2
OI   CVCL_D5VW ! PPMI.I.1130.3
SX   Male
AG   61Y
CA   Induced pluripotent stem cell
DT   Created: 02-05-24; Last updated: 10-04-25; Version: 4
//
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).
//