ID   PNUSCRi001-A
AC   CVCL_C1VH
SY   GBA PD iPSC7; GBA PD7
DR   BioSamples; SAMEA110465759
DR   hPSCreg; PNUSCRi001-A
DR   Wikidata; Q114312679
RX   PubMed=36332465;
CC   From: Convergence Stem Cell Research Center, Pusan National University; Yangsan; South Korea.
CC   Population: Korean.
CC   Sequence variation: Mutation; HGNC; 4177; GBA1; Simple; p.Asn227Ser (c.680A>G) (N188S); ClinVar=VCV000004314; Zygosity=Heterozygous (PubMed=36332465).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C26845; Parkinson's disease
DI   ORDO; Orphanet_2828; Young-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   56Y
CA   Induced pluripotent stem cell
DT   Created: 22-09-22; Last updated: 29-06-23; Version: 4
//
RX   PubMed=36332465; DOI=10.1016/j.scr.2022.102959;
RA   Lee N., Moon H.-J., Park S.-H., Moon J.-Y., Park K.-K., Kim J.-H.,
RA   Lee J.-H.;
RT   "Generation of Parkinson's disease patient-derived human induced
RT   pluripotent stem cells line (PNUSCRi001-A) carrying a N227S mutation
RT   in GBA gene.";
RL   Stem Cell Res. 65:102959-102959(2022).
//