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Cellosaurus ULUNDi007-A (CVCL_UL02)

[Text version]
Cell line name ULUNDi007-A
Synonyms CSC-46L; CSC-46
Accession CVCL_UL02
Resource Identification Initiative To cite this cell line use: ULUNDi007-A (RRID:CVCL_UL02)
Comments From: University of Lund; Lund; Sweden.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 4177; GBA1; Simple; p.Arg301Cys (c.901C>T) (R252C); ClinVar=VCV001303549; Zygosity=Heterozygous (PubMed=30640063).
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 60Y
Category Induced pluripotent stem cell
Publications

PubMed=30640063; DOI=10.1016/j.scr.2018.101373
Gustavsson N., Marote A., Pomeshchik Y., Russ K., Azevedo C., Chumarina M., Goldwurm S., Collin A., Pinto L., Salgado A.J., Klementieva O., Roybon L., Savchenko E.
Generation of an induced pluripotent stem cell line (CSC-46) from a patient with Parkinson's disease carrying a novel p.R301C mutation in the GBA gene.
Stem Cell Res. 34:101373-101373(2019)

Cross-references
Cell line databases/resources hPSCreg; ULUNDi007-A
Encyclopedic resources Wikidata; Q98134022
Entry history
Entry creation25-Feb-2019
Last entry update29-Jun-2023
Version number9