Stem Cell Research (Apr 2022)

Generation of an induced pluripotent stem cell line (EURACi014-A) from a Parkinson’s disease patient with an A53T mutation in the SNCA gene by an integration-free reprogramming method

  • Valentina Gilmozzi,
  • Giovanna Gentile,
  • Diana A. Riekschnitz,
  • Claudia B. Volpato,
  • Marina Di Segni,
  • Rosamaria Silipigni,
  • Peter P. Pramstaller,
  • Andrew A. Hicks,
  • Irene Pichler,
  • Alessandra Zanon

Journal volume & issue
Vol. 60
p. 102713

Abstract

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The SNCA gene encodes the presynaptic α-synuclein (aSyn) protein, and its mutations are associated with autosomal dominant Parkinson’s disease (PD). We describe the generation of an induced pluripotent stem cell (iPSC) line of a patient carrying a pathogenic Ala53Thr missense mutation in the SNCA gene. Human dermal fibroblasts were reprogrammed using a non-integrating episomal method. The generated iPSC line (EURACi014-A; iPS-1.1) shows expression of pluripotency markers, the potential to differentiate into all three germ layers, and a stable karyotype. Hence, this line represents a valuable resource for the study and modeling of the processes directly controlled by aSyn.