ID   PPMI.I.1078.3
SY   PPMI41486; PPMI_41486; CDIi042-A; FCDI_11329
DR   BioSamples; SAMEA115473818
DR   hPSCreg; CDIi042-A
CC   Part of: Parkinson's Progression Marker Initiative (PPMI) cell line panel.
CC   Population: Caucasian, not Hispanic.
CC   Sequence variation: Mutation; HGNC; 18618; LRRK2; Simple; p.Gly2019Ser (c.6055G>A); ClinVar=VCV000001940; Zygosity=Heterozygous (from autologous cell line PPMI.I.1078.2).
CC   Miscellaneous: PPMI study cohort PD, PPMI study subgroup LRRK2.
CC   Caution: The PPMI41486 and PPMI_41486 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_D5S5 ! PPMI.I.1078.1
OI   CVCL_D5S6 ! PPMI.I.1078.2
SX   Male
AG   65Y
CA   Induced pluripotent stem cell
DT   Created: 02-05-24; Last updated: 02-05-24; Version: 1