ID   JUCGRMi001-B
AC   CVCL_C0GE
SY   VPS35A5
DR   BioSamples; SAMEA13076456
DR   hPSCreg; JUCGRMi001-B
DR   Wikidata; Q112929906
RX   PubMed=35247840;
CC   From: Center for Genomic and Regenerative Medicine, Juntendo University; Tokyo; Japan.
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; 13487; VPS35; Simple; p.Asp620Asn (c.1858G>A); ClinVar=VCV000030196; Zygosity=Heterozygous (PubMed=35247840).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C201520; Parkinson disease 17
DI   ORDO; Orphanet_411602; Hereditary late-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_C0GD ! JUCGRMi001-A
OI   CVCL_C0GF ! JUCGRMi001-C
SX   Male
AG   56Y
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 05-10-23; Version: 5
//
RX   PubMed=35247840; DOI=10.1016/j.scr.2022.102739;
RA   Ishikawa K.-i., Ishiguro M., Li Y.-Z., Nishioka K., Hattori N.,
RA   Akamatsu W.;
RT   "Generation of three hiPSC clones from a Parkinson's disease patient
RT   with a heterozygous variant of VPS35 p.D620N.";
RL   Stem Cell Res. 60:102739-102739(2022).
//