ID   ULUNDi007-A
AC   CVCL_UL02
SY   CSC-46L; CSC-46
DR   hPSCreg; ULUNDi007-A
DR   Wikidata; Q98134022
RX   PubMed=30640063;
CC   From: University of Lund; Lund; Sweden.
CC   Sequence variation: Mutation; HGNC; 4177; GBA1; Simple; p.Arg301Cys (c.901C>T) (R252C); ClinVar=VCV001303549; Zygosity=Heterozygous (PubMed=30640063).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C26845; Parkinson's disease
DI   ORDO; Orphanet_411602; Hereditary late-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   60Y
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 29-06-23; Version: 9
//
RX   PubMed=30640063; DOI=10.1016/j.scr.2018.101373;
RA   Gustavsson N., Marote A., Pomeshchik Y., Russ K., Azevedo C.,
RA   Chumarina M., Goldwurm S., Collin A., Pinto L., Salgado A.J.,
RA   Klementieva O., Roybon L., Savchenko E.;
RT   "Generation of an induced pluripotent stem cell line (CSC-46) from a
RT   patient with Parkinson's disease carrying a novel p.R301C mutation in
RT   the GBA gene.";
RL   Stem Cell Res. 34:101373-101373(2019).
//