ID   PNUSCRi004-A
AC   CVCL_C7TW
SY   GBA PD iPSC8; GBA PD8
DR   BioSamples; SAMEA112286244
DR   hPSCreg; PNUSCRi004-A
DR   Wikidata; Q117704783
RX   PubMed=36805467;
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.Leu483Pro (c.1448T>C) (L444P); ClinVar=VCV000004288; Zygosity=Heterozygous (PubMed=36805467).
CC   Sequence variation: Mutation; HGNC; 4177; GBA1; Simple; p.Ala495Pro (c.1483G>C) (A456P); ClinVar=VCV000093450; Zygosity=Heterozygous (PubMed=36805467).
CC   Sequence variation: Mutation; HGNC; 4177; GBA1; Simple; p.Val499Val (c.1497G>C) (V460V); ClinVar=VCV000093451; Zygosity=Heterozygous (PubMed=36805467).
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   Female
AG   58Y
CA   Induced pluripotent stem cell
DT   Created: 21-03-23; Last updated: 29-06-23; Version: 2
//
RX   PubMed=36805467; DOI=10.1016/j.scr.2023.103051;
RA   Moon H.-J., Lee N., Moon J.-Y., Lee J.-H., Kim J.-H.;
RT   "Characterization of human induced pluripotent stem cells line
RT   (PNUSCRi004-A) from a Parkinson's disease patient carrying L483P,
RT   A495P and V499V mutations.";
RL   Stem Cell Res. 68:103051-103051(2023).
//