ID   IBMS-iPSC-043-05
AC   CVCL_UK20
SY   IBMSi012-A
DR   BCRC; SC81108
DR   hPSCreg; IBMSi012-A
DR   SKIP; SKIP005712
DR   Wikidata; Q94313052
RX   PubMed=30978640;
CC   From: Institute of Biomedical Sciences, Academia Sinica; Taipei; Taiwan.
CC   Population: Chinese.
CC   Sequence variation: Mutation; HGNC; 9039; PLA2G6; Simple; p.Asp331Tyr (c.991G>T); ClinVar=VCV000030371; Zygosity=Homozygous (PubMed=30978640).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C201519; Parkinson disease 14, autosomal recessive
DI   ORDO; Orphanet_199351; Adult-onset dystonia-parkinsonism
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   33Y
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 05-10-23; Version: 11
//
RX   PubMed=30978640; DOI=10.1016/j.scr.2019.101432;
RA   Cheng Y.-C., Lin H.-I., Syu S.-H., Lu H.-E., Huang C.-Y., Lin C.-H.,
RA   Hsieh P.C.-H.;
RT   "Reprogramming of a human induced pluripotent stem cell (iPSC) line
RT   (IBMSi012-A) from an early-onset Parkinson's disease patient harboring
RT   a homozygous p.D331Y mutation in the PLA2G6 gene.";
RL   Stem Cell Res. 37:101432-101432(2019).
//