ID   Trpl43
AC   CVCL_A4QW
DR   Wikidata; Q105511269
RX   PubMed=22110584;
CC   Population: Caucasian.
CC   Sequence variation: Gene amplification; HGNC; 11138; SNCA; Triplication; Zygosity=Unspecified (PubMed=22110584).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C198604; Parkinson disease 4, autosomal dominant
DI   ORDO; Orphanet_411602; Hereditary late-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_A4QU ! Trpl8
OI   CVCL_A4QV ! Trpl17
SX   Male
AG   48Y
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 29-06-23; Version: 6
//
RX   PubMed=22110584; DOI=10.1371/journal.pone.0026159; PMCID=PMC3217921;
RA   Byers B., Cord B., Nguyen H.N., Schule B., Fenno L., Lee P.C.,
RA   Deisseroth K.A., Langston J.W., Reijo Pera R.A., Palmer T.D.;
RT   "SNCA triplication Parkinson's patient's iPSC-derived DA neurons
RT   accumulate alpha-synuclein and are susceptible to oxidative stress.";
RL   PLoS ONE 6:E26159-E26159(2011).
//