ID   PPMI.I.1097.1
AC   CVCL_D5TP
SY   PPMI51782
DR   Wikidata; Q127383518
RX   PubMed=34434090;
RX   PubMed=35895835;
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: Caucasian, not Hispanic.
CC   Sequence variation: Mutation; HGNC; HGNC:18618; LRRK2; Simple; p.Gly2019Ser (c.6055G>A); ClinVar=VCV000001940; Zygosity=Heterozygous (PubMed=35895835).
CC   Donor information: At sampling established from a patient at the prodromal stage of Parkinson disease.
CC   Miscellaneous: PPMI study cohort prodromal, PPMI study subgroup LRRK2.
CC   Caution: The PPMI51782 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_D5TQ ! PPMI.I.1097.2
OI   CVCL_D5TR ! PPMI.I.1097.3
SX   Female
AG   69Y
CA   Induced pluripotent stem cell
DT   Created: 02-05-24; Last updated: 19-12-24; Version: 3
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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).
//
RX   PubMed=35895835; DOI=10.1126/scitranslmed.abp8869; PMCID=PMC9809150;
RA   Langston R.G., Beilina A., Reed X., Kaganovich A., Singleton A.B.,
RA   Blauwendraat C., Gibbs J.R., Cookson M.R.;
RT   "Association of a common genetic variant with Parkinson's disease is
RT   mediated by microglia.";
RL   Sci. Transl. Med. 14:eabp8869.1-eabp8869.12(2022).
//