Available at Jax: SNV/WT, REV/WT, and SNV/SNV of the A53T SNCA variant. Associated with Parkinson's Disease with dementia. Parental line is KOLF2.1J (JIPSC1000)
Gain-of-function mutations in LRRK2 gene lead to by increasing phosphorylation of RAB GTPases. Over-phosphorylation of RAB3A disrupts synaptic vesicle transport in human neurons, altering synaptic protein distribution and likely contributing to PD.
