Mutations or multiplications of the SNCA gene can cause rare autosomal dominant Parkinson's disease. The SNCA G51D missense mutation is associated with synucleinopathy similar to Parkinson's disease and multiple system atrophy. Induced pluripotent stem cell (iPSC) lines generated from individuals with SNCA G51D missense mutations showed normal morphology, expressed pluripotency markers, and differentiated into three germ layers. These iPSC lines can facilitate disease modeling and therapy development for synucleinopathies.
Mutations or multiplications of the SNCA (Synuclein Alpha) gene cause rare autosomal dominant Parkinson's disease (PD). The SNCA G51D missense mutation is associated with a synucleinopathy that shares PD and multiple system atrophy (MSA) characteristics. We generated induced pluripotent stem cell (iPSC) lines from two individuals with SNCA G51D missense mutations at risk of PD. Dermal fibroblasts were reprogrammed to pluripotency using a non-integrating mRNA-based protocol. The resulting human iPSCs displayed normal morphology, expressed markers associated with pluripotency, and differentiated into the three germ layers. The iPSC lines could facilitate disease-modelling and therapy development studies for synucleinopathies.
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