ID   PPMI.I.1091.3
AC   CVCL_D5TA
SY   PPMI51330; PPMI_51330; CDIi035-A; FCDI_11318
DR   BioSamples; SAMEA115473804
DR   hPSCreg; CDIi035-A
DR   Wikidata; Q127383486
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; 4177; GBA1; Simple; p.Asn409Ser (c.1226A>G) (N370S); ClinVar=VCV000004290; Zygosity=Heterozygous (from autologous cell line PPMI.I.1091.1).
CC   Sequence variation: Mutation; HGNC; 18618; LRRK2; Simple; p.Gly2019Ser (c.6055G>A); ClinVar=VCV000001940; Zygosity=Heterozygous (from autologous cell line PPMI.I.1091.1).
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 + GBA.
CC   Caution: The PPMI51330 and PPMI_51330 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; C198605; Parkinson disease 8, autosomal dominant
DI   ORDO; Orphanet_411602; Hereditary late-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_D5T8 ! PPMI.I.1091.1
OI   CVCL_D5T9 ! PPMI.I.1091.2
SX   Female
AG   64Y
CA   Induced pluripotent stem cell
DT   Created: 02-05-24; Last updated: 10-09-24; Version: 2
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