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Cellosaurus JUCGRMi001-B (CVCL_C0GE)

[Text version]

Cell line name JUCGRMi001-B
Synonyms VPS35A5
Accession CVCL_C0GE
Resource Identification Initiative To cite this cell line use: JUCGRMi001-B (RRID:CVCL_C0GE)
Comments From: Center for Genomic and Regenerative Medicine, Juntendo University; Tokyo; Japan.
Population: Japanese.
Derived from sampling site: Peripheral blood.
Sequence variations
  • Mutation; HGNC; 13487; VPS35; Simple; p.Asp620Asn (c.1858G>A); ClinVar=VCV000030196; Zygosity=Heterozygous (PubMed=35247840).
Disease Parkinson's disease (NCIt: C26845)
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_C0GF ! JUCGRMi001-C
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-B
Biological sample resources BioSamples; SAMEA13076456
Encyclopedic resources Wikidata; Q112929906
Entry history
Entry creation23-Jun-2022
Last entry update22-Sep-2022
Version number2