ID   ULUNDi006-A
AC   CVCL_RV28
SY   CSC-44I; CSC-44
DR   hPSCreg; ULUNDi006-A
DR   SKIP; SKIP002948
DR   Wikidata; Q54990748
RX   PubMed=29353703;
CC   From: University of Lund; Lund; Sweden.
CC   Sequence variation: Mutation; HGNC; 8607; PRKN; Simple; p.Arg275Trp (c.823C>T); ClinVar=VCV000007050; Zygosity=Heterozygous (PubMed=29353703).
CC   Sequence variation: Mutation; HGNC; 8607; PRKN; Unexplicit; Ex6del; Zygosity=Heterozygous (PubMed=29353703).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): PubMed=29353703
ST   Amelogenin: X
ST   CSF1PO: 11,12
ST   D13S317: 11
ST   D16S539: 9,12
ST   D21S11: 30,31
ST   D5S818: 11,12
ST   D7S820: 10
ST   TH01: 9.3
ST   TPOX: 8,11
ST   vWA: 18,19
DI   NCIt; C198603; Parkinson disease 2, autosomal recessive juvenile
DI   ORDO; Orphanet_2828; Young-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   78Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 29-06-23; Version: 11
//
RX   PubMed=29353703; DOI=10.1016/j.scr.2018.01.006;
RA   Marote A., Pomeshchik Y., Goldwurm S., Collin A., Lamas N.J.,
RA   Pinto L., Salgado A.J., Roybon L.;
RT   "Generation of an induced pluripotent stem cell line (CSC-44) from a
RT   Parkinson's disease patient carrying a compound heterozygous mutation
RT   (c.823C>T and EX6 del) in the PARK2 gene.";
RL   Stem Cell Res. 27:90-94(2018).
//