ID   FFF-022
AC   CVCL_A9P7
SY   FFF0962009
DR   Wikidata; Q102113819
RX   PubMed=22666358;
RX   PubMed=23075850;
CC   Sequence variation: Mutation; HGNC; 18618; LRRK2; Simple; p.Gly2019Ser (c.6055G>A); ClinVar=VCV000001940; Zygosity=Heterozygous (PubMed=22666358).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
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   Male
AG   47Y
CA   Finite cell line
DT   Created: 29-10-20; Last updated: 29-06-23; Version: 6
//
RX   PubMed=22666358; DOI=10.1371/journal.pone.0037467;
RA   Cartelli D., Goldwurm S., Casagrande F., Pezzoli G., Cappelletti G.;
RT   "Microtubule destabilization is shared by genetic and idiopathic
RT   Parkinson's disease patient fibroblasts.";
RL   PLoS ONE 7:E37467-E37467(2012).
//
RX   PubMed=23075850; DOI=10.1038/nature11557;
RA   Liu G.-H., Qu J., Suzuki K., Nivet E., Li M., Montserrat N., Yi F.,
RA   Xu X.-L., Ruiz S., Zhang W.-Q., Wagner U., Kim A., Ren B., Li Y.,
RA   Goebl A., Kim J., Soligalla R.D., Dubova I., Thompson J.,
RA   Yates J.R. III, Esteban C.R., Sancho-Martinez I., Izpisua Belmonte J.C.;
RT   "Progressive degeneration of human neural stem cells caused by
RT   pathogenic LRRK2.";
RL   Nature 491:603-607(2012).
//