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Cellosaurus LCSBi001-A (CVCL_YD64)

[Text version]

Cell line name LCSBi001-A
Synonyms VPS35 1_2; VPS35 Clone 33
Accession CVCL_YD64
Resource Identification Initiative To cite this cell line use: LCSBi001-A (RRID:CVCL_YD64)
Comments From: Luxembourg Centre for Systems Biomedicine; Belvaux; Luxembourg.
Population: Caucasian.
Derived from sampling site: Skin; dermis. Cell type=Fibroblast.
Sequence variations
  • Mutation; HGNC; 13487; VPS35; Simple; p.Asp620Asn (c.1858G>A); ClinVar=VCV000030196; Zygosity=Heterozygous (CelloPub=CLPUB00553; PubMed=32387898).
Disease Parkinson's disease (NCIt: C26845)
Hereditary late-onset Parkinson disease (ORDO: Orphanet_411602)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 76Y
Category Induced pluripotent stem cell
Publications

CLPUB00553
Larsen S.
Phenotypic characterization of cellular models of VPS35-associated mutation in Parkinson's disease.
Thesis PhD (2019), University of Luxembourg, Luxembourg

PubMed=32387898; DOI=10.1016/j.scr.2020.101776
Larsen S.B., Hanss Z., Cruciani G., Massart F., Barbuti P.A., Mellick G., Kruger R.
Induced pluripotent stem cell line (LCSBi001-A) derived from a patient with Parkinson's disease carrying the p.D620N mutation in VPS35.
Stem Cell Res. 45:101776-101776(2020)

Cross-references
Cell line databases/resources hPSCreg; LCSBi001-A
Biological sample resources BioSamples; SAMEA6673733
Encyclopedic resources Wikidata; Q95981963
Entry history
Entry creation19-Dec-2019
Last entry update17-Mar-2022
Version number5