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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.
Devito, Liani G; Zanjani, Zeinab Shadman; Evans, James R; Scardamaglia, Annarita; Houlden, Henry; Gandhi, Sonia; Healy, Lyn.
Affiliation
  • Devito LG; Human Embryo and Stem Cell Unit, The Francis Crick Institute, London, UK. Electronic address: liani.devito@crick.ac.uk.
  • Zanjani ZS; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK; The Francis Crick Institute, 1 Midland Road, London, UK.
  • Evans JR; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK; The Francis Crick Institute, 1 Midland Road, London, UK.
  • Scardamaglia A; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
  • Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
  • Gandhi S; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK; The Francis Crick Institute, 1 Midland Road, London, UK.
  • Healy L; Human Embryo and Stem Cell Unit, The Francis Crick Institute, London, UK. Electronic address: lyn.healy@crick.ac.uk.
Stem Cell Res ; 71: 103134, 2023 09.
Article in En | MEDLINE | ID: mdl-37336145
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.
Subject(s)

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Parkinson Disease / Multiple System Atrophy / Induced Pluripotent Stem Cells Type of study: Etiology_studies / Guideline / Prognostic_studies / Risk_factors_studies Limits: Humans Language: En Journal: Stem Cell Res Year: 2023 Document type: Article

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Parkinson Disease / Multiple System Atrophy / Induced Pluripotent Stem Cells Type of study: Etiology_studies / Guideline / Prognostic_studies / Risk_factors_studies Limits: Humans Language: En Journal: Stem Cell Res Year: 2023 Document type: Article