ID   CIBi007-A
AC   CVCL_YT00
SY   PARK2/HTRA2 iPSC; YOPD iPSC-C28; iPSD0036
DR   BioSamples; SAMEA6649654
DR   hPSCreg; CIBi007-A
DR   SKIP; SKIP005866
DR   Wikidata; Q93453494
RX   PubMed=32688332;
CC   From: Cell Inspire Biotechnology; Shenzhen; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 14348; HTRA2; Simple; p.Pro143Ala (c.427C>G); ClinVar=VCV000030583; Zygosity=Heterozygous (PubMed=32688332).
CC   Sequence variation: Mutation; HGNC; 8607; PRKN; Simple; p.Cys154Phe (c.461G>T); Zygosity=Heterozygous (PubMed=32688332).
CC   Sequence variation: Mutation; HGNC; 8607; PRKN; Simple; p.Cys337Tyr (c.1010G>A); Zygosity=Heterozygous (PubMed=32688332).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C198603; Parkinson disease 2, autosomal recessive juvenile
DI   ORDO; Orphanet_2828; Young-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   13Y
CA   Induced pluripotent stem cell
DT   Created: 12-03-20; Last updated: 29-06-23; Version: 7
//
RX   PubMed=32688332; DOI=10.1016/j.scr.2020.101905;
RA   Yan Y.-B., Wu S.-H., Jiang L.-X., Yang B., Chen X.-H., Liu Y.-Q.,
RA   Yu B.-R., Fu J., Yu J., Ning H., Chu M., Yang J.-Y.;
RT   "Generation of a human iPSC line CIBi007-A from a patient with
RT   young-onset Parkinson's disease carrying variants in PRKN and HTRA2.";
RL   Stem Cell Res. 47:101905-101905(2020).
//