Cellosaurus cell line ULUNDi007-A (CVCL

Cross-references
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; 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)
Cell line databases/resources	hPSCreg; ULUNDi007-A
Encyclopedic resources	Wikidata; Q98134022
Entry history
Entry creation	25-Feb-2019
Last entry update	19-Dec-2024
Version number	10