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 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 Nadja Gustavsson, Ana Marote, Yuriy Pomeshchik, Kaspar Russ, Carla Azevedo, Margarita Chumarina, Stefano Goldwurm, Anna Collin, Luisa Pinto, Antonio Jose Salgado, Oxana Klementieva ...Show all 13 authors... , Laurent Roybon, Ekaterina Savchenko; Show fewer authors 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	10-Apr-2025
Version number	11