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  1. 1

    Generation of an integration-free induced pluripotent stem cell line (CSC-43) from a patient with sporadic Parkinson's disease

    Publicação
    por Marote, Ana Maria Franco Aveiro
    Outros Autores: Pomeshchik, Yuriy; Goldwurm, Stefano; Collin, Anna; Lamas, Nuno J.; Pinto, Luísa et al.
    An induced pluripotent stem cell (iPSC) line was generated from a 36-year-old patient with sporadic Parkinson's disease (PD). Skin fibroblasts were reprogrammed using the non-integrating Sendai virus technology to deliver OCT3/4, SOX2, c-MYC and KLF4 factors. The generated cell line (CSC-43) exhibits expression of common pluripotency markers, in vitro differentiation into three germ layers and normal karyotype. This iPSC line can be used to study the mechanisms underlying the development of PD.
    2018 artigo Portugal acesso aberto
  2. 2

    Generation of an induced pluripotent stem cell line (CSC-44) from a Parkinson's disease patient carrying a compound heterozygous mutation (c.823C>T and EX6 del) in the PARK2 gene

    Publicação
    por Marote, Ana Maria Franco Aveiro
    Outros Autores: Pomeshchik, Yuriy; Goldwurm, Stefano; Collin, Anna; Lamas, Nuno Jorge; Pinto, Luísa et al.
    Mutations in the PARK2 gene, which encodes PARKIN, are the most frequent cause of autosomal recessive Parkinson's disease (PD). We report the generation of an induced pluripotent stem cell (iPSC) line from a 78-year-old patient carrying a compound heterozygous mutation (c.823C>T and EX6del) in the PARK2 gene. Skin fibroblasts were reprogrammed using the non-integrating Sendai virus technology to deliver OCT3/4, SOX2, c-MYC and KLF4 factors. The generated cell line CSC-44 exhibits expression of common pluripotency markers, in vitro differentiation into the three germ layers and normal karyotype. This iPSC line can be used to explore the association between PARK2 mutations and PD.
    2018 artigo Portugal acesso aberto