ID   ULUNDi001-A
AC   CVCL_VA37
SY   CSC-40F; CSC-40
DR   hPSCreg; ULUNDi001-A
DR   SKIP; SKIP002981
DR   Wikidata; Q54990744
RX   PubMed=29331938;
CC   From: University of Lund; Lund; Sweden.
CC   Sequence variation: Mutation; HGNC; 14581; PINK1; Simple; p.Gln456Ter (c.1366C>T); ClinVar=VCV000002415; Zygosity=Homozygous (PubMed=29331938).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): PubMed=29331938
ST   Amelogenin: X
ST   CSF1PO: 11
ST   D13S317: 9
ST   D16S539: 11,12
ST   D21S11: 31.2,32.2
ST   D5S818: 11
ST   D7S820: 12
ST   TH01: 6,7
ST   TPOX: 9,10
ST   vWA: 16
DI   NCIt; C184990; Parkinson disease 6, early onset
DI   ORDO; Orphanet_2828; Young-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   59Y
CA   Induced pluripotent stem cell
DT   Created: 14-05-18; Last updated: 29-06-23; Version: 10
//
RX   PubMed=29331938; DOI=10.1016/j.scr.2018.01.001;
RA   Russ K., Marote A., Savchenko E., Collin A., Goldwurm S.,
RA   Pomeshchik Y., Roybon L.;
RT   "Generation of a human induced pluripotent stem cell line (CSC-40)
RT   from a Parkinson's disease patient with a PINK1 p.Q456X mutation.";
RL   Stem Cell Res. 27:61-64(2018).
//