ID   PPMI.I.1043.2
AC   CVCL_D5PN
SY   PPMI3954; PPMI_3954; CDIi085-A; FCDI_11484
DR   BioSamples; SAMEA115473904
DR   hPSCreg; CDIi085-A
DR   Wikidata; Q127383253
WW   Info; PPMI; -; https://www.michaeljfox.org/sites/default/files/media/document/2018%20-%20PDTC%20-%20NKP%20Poster%20on%20iPSCs.pdf
WW   Info; PPMI; -; https://www.ppmi-info.org/access-data-specimens/download-data
CC   Part of: Parkinson's Progression Markers Initiative (PPMI) cell line panel.
CC   Population: Caucasian, not Hispanic.
CC   Sequence variation: Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Glu365Lys (c.1093G>A) (E326K); ClinVar=VCV000199044; Zygosity=Heterozygous (from autologous cell line PPMI.I.1043.1).
CC   Miscellaneous: PPMI study cohort PD, PPMI study subgroup sporadic.
CC   Caution: The PPMI3954 and PPMI_3954 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 disease
DI   ORDO; Orphanet_411602; Hereditary late-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_D5PM ! PPMI.I.1043.1
SX   Female
AG   65-69Y
CA   Induced pluripotent stem cell
DT   Created: 02-05-24; Last updated: 10-04-25; Version: 4
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