ID   JUCGRMi002-A
AC   CVCL_C0GG
SY   DupA5
DR   BioSamples; SAMEA113970329
DR   hPSCreg; JUCGRMi002-A
DR   Wikidata; Q112929911
RX   PubMed=38154385;
CC   From: Center for Genomic and Regenerative Medicine, Juntendo University; Tokyo; Japan.
CC   Population: Japanese.
CC   Sequence variation: Gene amplification; HGNC; 11138; SNCA; Triplication; Zygosity=Heterozygous (PubMed=38154385).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C198604; Parkinson disease 4, autosomal dominant
DI   ORDO; Orphanet_411602; Hereditary late-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_C0GH ! JUCGRMi002-B
OI   CVCL_C0GI ! JUCGRMi002-C
SX   Female
AG   67Y
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 02-05-24; Version: 5
//
RX   PubMed=38154385; DOI=10.1016/j.scr.2023.103296;
RA   Ishikawa K.-i., Shiga T., Yoshino H., Nishioka K., Hattori N.,
RA   Akamatsu W.;
RT   "Generation of three clones (JUCGRMi002-A, B, C) of induced
RT   pluripotent stem cells from a Parkinson's disease patient with SNCA
RT   duplication.";
RL   Stem Cell Res. 74:103296-103296(2024).
//