ID   PPMI.I.1121.2
AC   CVCL_D5VD
SY   PPMI54262; PPMI_54262; CDIi043-A; FCDI_11331
DR   BioSamples; SAMEA115473820
DR   hPSCreg; CDIi043-A
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 Marker 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.1121.1).
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 GBA.
CC   Caution: The PPMI54262 and PPMI_54262 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's disease
DI   ORDO; Orphanet_411602; Hereditary late-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_D5VC ! PPMI.I.1121.1
OI   CVCL_D5VE ! PPMI.I.1121.3
SX   Male
AG   71Y
CA   Induced pluripotent stem cell
DT   Created: 02-05-24; Last updated: 02-05-24; Version: 1
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