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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

Authors :
Devito, Liani G
Zanjani, Zeinab Shadman
Evans, James R
Scardamaglia, Annarita
Houlden, Henry
Gandhi, Sonia
Healy, Lyn
Publication Year :
2023
Publisher :
The Francis Crick Institute, 2023.

Abstract

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.

Details

Database :
OpenAIRE
Accession number :
edsair.doi.dedup.....6f16624e94d1b66cb1b99be35539b2b4
Full Text :
https://doi.org/10.25418/crick.23560800