ID   SP12.4
AC   CVCL_RI62
DR   SKIP; SKIP000956
DR   Wikidata; Q54955423
RX   PubMed=22407749;
CC   From: Institut de Bioenginyeria de Catalunya (IBEC); Barcelona; Spain.
CC   Sequence variation: Mutation; HGNC; HGNC:18618; LRRK2; Simple; p.Gly2019Ser (c.6055G>A); ClinVar=VCV000001940; Zygosity=Heterozygous (PubMed=22407749).
CC   Derived from site: In situ; Skin, epidermis; UBERON=UBERON_0001003.
CC   Cell type: Keratinocyte; CL=CL_0000312.
DI   NCIt; C198605; Parkinson disease 8, autosomal dominant
DI   ORDO; Orphanet_411602; Hereditary late-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_RI61 ! SP12.3
SX   Female
AG   63Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 19-12-24; Version: 11
//
RX   PubMed=22407749; DOI=10.1002/emmm.201200215; PMCID=PMC3403296;
RA   Sanchez-Danes A., Richaud-Patin Y., Carballo-Carbajal I.,
RA   Jimenez-Delgado S., Caig C., Mora S., Di Guglielmo C., Ezquerra M.,
RA   Patel B., Giralt A., Canals J.M., Memo M., Alberch J.,
RA   Lopez-Barneo J., Vila M., Cuervo A.M., Tolosa E., Consiglio A.,
RA   Raya A.;
RT   "Disease-specific phenotypes in dopamine neurons from human iPS-based
RT   models of genetic and sporadic Parkinson's disease.";
RL   EMBO Mol. Med. 4:380-395(2012).
//