" /> Cell model of Parkinson’s disease — Edinburgh Innovations

Cell model of Parkinson’s disease

A collection of induced pluripotent stem cell lines from a Parkinson’s disease patient with triplication of the α-synuclein locus and an unaffected first-degree relative has been produced.

Bile duct cancer is difficult to detect


  • Drug screening
  • Investigation of neurodegeneration caused by α-synuclein dysfunction


Proof of Concept, in vitro data


  • Licensing or collaborative research


Despite Parkinson’s disease (PD) being the most common neurodegenerative movement disorder, it is infamously difficult to model and assess the disease process in the laboratory. This is in part due to the inaccessibility of diseased neurons from patients. Transgenic models of α-synuclein do not fully replicate the phenotype of the human disease. Existing primary cell models also have major drawbacks, animal tissues being challenging to sustain in culture, and immortalized cell lines harbouring abnormalities that make them significantly different to normal human neurons.

A potential solution is to utilize disease-specific induced pluripotent stem cells (iPSCs) derived from familial PD patients. Dr Tilo Kunath’s group developed iPSCs with genetic mutations known to cause Parkinson’s. This model represents a valuable experimental system to identify compounds that reduce levels and aggregation of α-synuclein and investigate the mechanistic basis of neurodegeneration.


The SNCA gene encodes α-synuclein, a protein known to be related to Parkinson’s disease development. Triplication of SNCA results in increased levels of α-synuclein messenger RNA and protein, and is correlated with rapid, early onset Parkinson’s disease.

Our researchers have produced multiple induced pluripotent stem cell (iPSC) lines isolated from a Parkinson’s disease patient with SNCA triplication. The lines are well characterised and successfully differentiated into midbrain dopaminergic neurons, the neuronal cell type primarily affected in Parkinson’s disease. The neurons derived from patients expressed double the amount of α-synuclein protein than the healthy control, accurately recreating the disease state cell pathology.


  • Novel, scalable method for in vitro Parkinson’s disease synucleopathy modelling
  • Patient derived with healthy control of 1st degree relative
  • Isogenic CRISPR-engineered control iPSC lines available
  • Well characterised cell lines for genetic stability and neuronal differentiation
  • Gene mutation with full penetrance



Devine, M.J. et al. Parkinson’s disease induced pluripotent stem cells with triplication of the α-synuclein locus. Nat. Commun. 2:440 doi: 10.1038/ncomms1453 (2011).

Contact us to find out how we can help