ID   PPMI.I.1118.3.ISO.1
AC   CVCL_D5V6
DR   Wikidata; Q127383629
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_corrected; p.Asn409Ser (c.1226A>G) (N370S); ClinVar=VCV000004290; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PPMI).
CC   Omics: Genome sequenced.
CC   Miscellaneous: PPMI study cohort PD, PPMI study subgroup GBA.
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)
HI   CVCL_D5V5 ! PPMI.I.1118.3
SX   Male
AG   57Y
CA   Induced pluripotent stem cell
DT   Created: 02-05-24; Last updated: 10-09-24; Version: 2
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