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

• DOI: 10.1016/j.scr.2023.103134
• Publication Date: 2023-06-06T05:59:19Z
• Authors: Liani G. Devito; Zeinab Shadman Za...; James R. Evans; Annarita Scardama...; Henry Houlden; Sonia Gandhi; Lyn Healy
• Keywords: Synucleinopathies

Mutations or multiplications of the SNCA (Synuclein Alpha) gene cause rare autosomal dominant Parkinson's disease (PD). The 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 mutations at risk PD. Dermal fibroblasts were reprogrammed to pluripotency using non-integrating mRNA-based protocol. resulting human iPSCs displayed normal morphology, expressed markers pluripotency, differentiated into three germ layers. iPSC could facilitate disease-modelling therapy development studies for synucleinopathies.