ID   PPMI.I.1075.2
AC   CVCL_D5RZ
SY   PPMI41401
DR   Wikidata; Q127383373
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 Markers Initiative (PPMI) cell line panel.
CC   Population: Hispanic.
CC   Sequence variation: Mutation; HGNC; 18618; LRRK2; Simple; p.Arg1441Gly (c.4321C>G); ClinVar=VCV000001936; Zygosity=Heterozygous (PPMI).
CC   Miscellaneous: PPMI study cohort PD, PPMI study subgroup LRRK2.
CC   Caution: The PPMI41401 identifier corresponds to an internal donor ID at PPMI. As multiple iPSC clones have been established from the cells of this donor, this identifier should not be cited in a publication.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C198605; Parkinson disease 8, autosomal dominant
DI   ORDO; Orphanet_411602; Hereditary late-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_D5RY ! PPMI.I.1075.1
SX   Female
AG   42Y
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).
//