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Cellosaurus PPMI.I.1075.2 (CVCL_D5RZ)

[Text version]
Cell line name PPMI.I.1075.2
Synonyms PPMI41401
Accession CVCL_D5RZ
Resource Identification Initiative To cite this cell line use: PPMI.I.1075.2 (RRID:CVCL_D5RZ)
Comments Part of: Parkinson's Progression Markers Initiative (PPMI) cell line panel.
Population: Hispanic.
Miscellaneous: PPMI study cohort PD, PPMI study subgroup LRRK2.
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.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:18618; LRRK2; Simple; p.Arg1441Gly (c.4321C>G); ClinVar=VCV000001936; Zygosity=Heterozygous (PPMI).
Disease Parkinson disease 8, autosomal dominant (NCIt: C198605)
Hereditary late-onset Parkinson disease (ORDO: Orphanet_411602)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_D5RY ! PPMI.I.1075.1
Sex of cell Female
Age at sampling 42Y
Category Induced pluripotent stem cell
Web pages https://www.ppmi-info.org/access-data-specimens/download-data
https://www.michaeljfox.org/sites/default/files/media/document/2018%20-%20PDTC%20-%20NKP%20Poster%20on%20iPSCs.pdf
Publications

PubMed=34434090; DOI=10.3389/fnmol.2021.734273; PMCID=PMC8381147
Nguyen D., Bharat V., Conradson D.M., Nandakishore P., Wang X.-N.
Miro1 impairment in a Parkinson's at-risk cohort.
Front. Mol. Neurosci. 14:734273.1-734273.8(2021)

Cross-references
Encyclopedic resources Wikidata; Q127383373
Entry history
Entry creation02-May-2024
Last entry update19-Dec-2024
Version number3