ID   ULUNDi002-A
AC   CVCL_RV26
SY   CSC-41C; CSC-41
DR   hPSCreg; ULUNDi002-A
DR   Wikidata; Q54990745
RX   PubMed=29414418;
CC   From: University of Lund; Lund; Sweden.
CC   Sequence variation: Mutation; HGNC; 18618; LRRK2; Simple; p.Gly2019Ser (c.6055G>A); ClinVar=VCV000001940; Zygosity=Heterozygous (PubMed=29414418).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): PubMed=29414418
ST   Amelogenin: X
ST   CSF1PO: 11,13
ST   D13S317: 8,9
ST   D16S539: 8,11
ST   D21S11: 32.2
ST   D5S818: 10,13
ST   D7S820: 9,12
ST   TH01: 7,9
ST   TPOX: 8,11
ST   vWA: 15,16
DI   NCIt; C198605; Parkinson disease 8, autosomal dominant
DI   ORDO; Orphanet_411602; Hereditary late-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   75Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 29-06-23; Version: 9
//
RX   PubMed=29414418; DOI=10.1016/j.scr.2018.01.022;
RA   Marote A., Pomeshchik Y., Collin A., Goldwurm S., Lamas N.J.,
RA   Pinto L., Salgado A.J., Roybon L.;
RT   "Generation of an induced pluripotent stem cell line (CSC-41) from a
RT   Parkinson's disease patient carrying a p.G2019S mutation in the LRRK2
RT   gene.";
RL   Stem Cell Res. 28:44-47(2018).
//