iCell DopaNeurons PD GBA N370S, 11344 and Isogenic Control

Mutations in GBA gene are a common genetic risk factor for Parkinson’s disease (PD), occurring in > 5% of all cases. The GBA gene encodes glucocerebrosidase (GCase), a lysosomal enzyme that metabolizes glucocerebroside into ceramide and glucose. The GBA N370S mutation is associated aberrant α-synuclein aggregation, reduced GCase activity, malfunction of the autophagy-lysosomal pathway, and endosomal stress.

iCell® DopaNeurons PD GBA N370S were derived from induced pluripotent stem (iPS) cells from the Parkinson's Progression Markers Initiative (PPMI). Sponsored by The Michael J. Fox Foundation, PPMI partnered with FUJIFILM Cellular Dynamics (FCDI) to produce a large bank of Parkinson’s donor-derived iPS cells, including lines harboring Parkinson’s-associated genetic mutations, such as GBA N370S. Each cell line is supported by PPMI donor clinical, imaging, genomics, and biological data. (www.ppmi-info.org)

To enable investigation of the functional consequences of the mutation within this patient-derived line, we used genetic engineering to generate a N370S/N mutation-corrected isogenic cell line from the same donor.

iCell DopaNeurons lines are 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 FCDI.

Benefits of iCell DopaNeurons PD GBA N370S and isogenic GBA N370S/N cell lines:

• Fully differentiated, >80% pure midbrain DA neurons derived from GBA N370S donor iPS cells
• Express midbrain dopaminergic neuron markers (e.g., Lmx1, FoxA2, and TH)
• Isogenic control GBA N370S/N mutation-corrected cell line is available.
• iCell DopaNeurons PD GBA N370S exhibit:
• Reduced GCase activity
• Altered dopamine metabolism
• Elevated alpha-synuclein protein accumulation
• Increased neuronal degeneration compared to the apparently healthy normal control iCell DopaNeurons
• Accessible and consistent model for discovery and toxicology research of Parkinson’s disease.
• View all Parkinson’s Disease iCell DopaNeurons cell lines