The Francis Crick Institute
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Generation of TWO G51D SNCA missense mutation iPSC lines (CRICKi011-A, CRICKi012-A) from two individuals at risk of Parkinson’s disease

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journal contribution
posted on 2023-06-22, 13:42 authored by Liani G Devito, Zeinab Shadman Zanjani, James R Evans, Annarita Scardamaglia, Henry Houlden, Sonia Gandhi, Lyn Healy
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.


Crick (Grant ID: CC1070, Grant title: STP HESCU)