Available at Jax: SNV/WT, SNV/SNV, and REV/REV of the R42P PRKN 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.
