iCell® DopaNeurons A53T
Study a Highly Penetrant Mutation in Human Dopaminergic Neurons
SNCA A53T is one of the most highly penetrant and widely studied mutations linked to Parkinson’s disease (PD). SNCA encodes for the alpha-synuclein (α-syn) protein, which is predominantly expressed in the brain at presynaptic terminals. The A53T mutation renders α-syn more susceptible to aggregation and accumulation, which are hallmark indicators of PD pathology.
To generate a heterozygous (HZ) A53T allelic variant isogenic to iCell® DopaNeurons, nuclease-mediated SNP alteration of a healthy control iPS cell line was performed to introduce this site-specific mutation into the gene for SNCA. This genome-engineered iPS cell was then differentiated into human midbrain floorplate dopaminergic (DA) neurons according to protocols licensed and adapted from the Lorenz Studer lab (Memorial Sloan Kettering) and industrialized at CDI, to produce iCell DopaNeurons SNCA A53T HZ. Please also see the isogenic iCell DopaNeurons.
iCell DopaNeurons SNCA A53T HZ exhibit the relevant biology and functionality to advance research and preclinical studies for devastating neurological disorders:
- Fully differentiated, >80% pure midbrain DA neurons
- Expression of relevant midbrain DA neuron markers (e.g. Lmx1, FoxA2, and TH)