ID   CBIGi003-A
AC   CVCL_C0K8
SY   3026; GBA N370S, heterozygous
DR   BioSamples; SAMEA13204587
DR   hPSCreg; CBIGi003-A
DR   Wikidata; Q112929372
RX   PubMed=36130446;
WW   https://cbigr-open.loris.ca/c-big_ipsc_catalog_May2022.pdf
CC   From: Clinical Biospecimen Imaging and Genetic (C-BIG) Repository, Montreal Neurological Institute, McGill University; Montreal; Canada.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 4177; GBA1; Simple; p.Asn409Ser (c.1226A>G) (N370S); ClinVar=VCV000004290; Zygosity=Heterozygous (PubMed=36130446).
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)
SX   Female
AG   65Y
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 29-06-23; Version: 5
//
RX   PubMed=36130446; DOI=10.1016/j.scr.2022.102919;
RA   Chen C.X.-Q., Deneault E., Abdian N., You Z.-P., Sirois J., Nicouleau M.,
RA   Shlaifer I., Villegas L., Boivin M.-N., Gaborieau L., Karamchandani J.,
RA   Beitel L.K., Fon E.A., Durcan T.M.;
RT   "Generation of patient-derived pluripotent stem cell-lines and CRISPR
RT   modified isogenic controls with mutations in the Parkinson's
RT   associated GBA gene.";
RL   Stem Cell Res. 64:102919-102919(2022).
//