ID   PNUSCRi002-A
AC   CVCL_C1VI
SY   GBA PD iPSC9; GBA PD9
DR   BioSamples; SAMEA110647800
DR   hPSCreg; PNUSCRi002-A
DR   Wikidata; Q114312680
RX   PubMed=36274270;
CC   From: Convergence Stem Cell Research Center, Pusan National University; Yangsan; South Korea.
CC   Population: Korean.
CC   Sequence variation: Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Arg159Trp (c.475C>T) (R120W); ClinVar=VCV000065570; Zygosity=Heterozygous (PubMed=36274270).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C26845; Parkinson disease
DI   ORDO; Orphanet_2828; Young-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   52Y
CA   Induced pluripotent stem cell
DT   Created: 22-09-22; Last updated: 10-04-25; Version: 6
//
RX   PubMed=36274270; DOI=10.1016/j.scr.2022.102948;
RA   Moon H.-J., Lee N., Moon J.-Y., Park K.-K., Lee J.-H., Kim J.-H.;
RT   "Human induced pluripotent stem cells line (PNUSCRi002-A) from a
RT   patient with Parkinson's disease carrying a R159W mutation in the GBA
RT   gene.";
RL   Stem Cell Res. 65:102948-102948(2022).
//