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Cellosaurus JUCGRMi001-C (CVCL_C0GF)

[Text version]
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; 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
Ishikawa K.-i., Ishiguro M., Li Y.-Z., Nishioka K., Hattori N., Akamatsu W.
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)

Cross-references
Cell line databases/resources hPSCreg; JUCGRMi001-C
Biological sample resources BioSamples; SAMEA13076457
Encyclopedic resources Wikidata; Q112929909
Entry history
Entry creation23-Jun-2022
Last entry update05-Oct-2023
Version number5