Stem Cell Research (Mar 2020)

Generation of an induced pluripotent stem cell line (CSC-32) from a patient with Parkinson's disease carrying a heterozygous variation p.A53T in the SNCA gene

  • Carla Azevedo,
  • Margarita Chumarina,
  • Evgenija Serafimova,
  • Stefano Goldwurm,
  • Anna Collin,
  • Laurent Roybon,
  • Ekaterina Savchenko,
  • Yuriy Pomeshchik

Journal volume & issue
Vol. 43

Abstract

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Here, we describe the generation of an induced pluripotent stem cell (iPSC) line, from a male patient diagnosed with Parkinson's disease (PD). The patient carries a heterozygous variation p.A53T in the SNCA gene. Skin fibroblasts were reprogrammed using the non-integrating Sendai virus technology to deliver OCT3/4, SOX2, c-MYC and KLF4 factors. The generated iPSC line (CSC-32) preserved the mutation, displayed expression of common pluripotency markers, differentiated into derivatives of the three germ layers, and exhibited a normal karyotype. The clone CSC-32B is presented thereafter; it can be used to study the mechanisms underlying PD pathogenesis.