Cellosaurus cell line JUCGRMi001-C (CVCL

Cross-references
Cell line name	JUCGRMi001-C
Synonyms	VPS35A8
Accession	CVCL_C0GF
Resource Identification Initiative	To cite this cell line use: JUCGRMi001-C (RRID:CVCL_C0GF)
Comments	From: Center for Genomic and Regenerative Medicine, Juntendo University; Tokyo; Japan. Population: Japanese. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:13487; VPS35; Simple; p.Asp620Asn (c.1858G>A); ClinVar=VCV000030196; Zygosity=Heterozygous (PubMed=35247840).
Disease	Parkinson disease 17 (NCIt: C201520) Hereditary late-onset Parkinson disease (ORDO: Orphanet_411602)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_C0GD ! JUCGRMi001-A CVCL_C0GE ! JUCGRMi001-B
Sex of cell	Male
Age at sampling	56Y
Category	Induced pluripotent stem cell
Publications	PubMed=35247840; DOI=10.1016/j.scr.2022.102739 Kei-ichi Ishikawa, Mayu Ishiguro, Yuan-Zhe Li, Kenya Nishioka, Nobutaka Hattori, Wado Akamatsu; Generation of three hiPSC clones from a Parkinson's disease patient with a heterozygous variant of VPS35 p.D620N. Stem Cell Res. 60:102739-102739(2022)
Cell line databases/resources	hPSCreg; JUCGRMi001-C
Biological sample resources	BioSamples; SAMEA13076457
Encyclopedic resources	Wikidata; Q112929909
Entry history
Entry creation	23-Jun-2022
Last entry update	19-Dec-2024
Version number	6