ID   JUCGRMi003-A
AC   CVCL_D0GX
SY   PH13
DR   BioSamples; SAMEA113970990
DR   hPSCreg; JUCGRMi003-A
DR   Wikidata; Q123032771
RX   PubMed=38309147;
CC   From: Center for Genomic and Regenerative Medicine, Juntendo University; Tokyo; Japan.
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; 8607; PRKN; Unexplicit; Ex3del; Zygosity=Homozygous (PubMed=38309147).
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   25Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 10-09-24; Version: 4
//
RX   PubMed=38309147; DOI=10.1016/j.scr.2024.103323;
RA   Ishikawa K.-i., Okuzumi A., Yoshino H., Hattori N., Akamatsu W.;
RT   "Generation of hiPSCs (JUCGRMi003-A) from a patient with Parkinson's
RT   disease with PARK2 mutation.";
RL   Stem Cell Res. 76:103323-103323(2024).
//