Detalhes bibliográficos
| Resumo: | 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. |
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| Autores principais: | Marote, Ana Maria Franco Aveiro |
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| Outros Autores: | Pomeshchik, Yuriy; Goldwurm, Stefano; Collin, Anna; Lamas, Nuno Jorge; Pinto, Luísa; Salgado, A. J.; Roybon, Laurent |
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| Assunto: | Adult Aged Cell Differentiation Cells, Cultured Cellular Reprogramming Female Heterozygote Humans Induced Pluripotent Stem Cells Mutation Parkinson Disease Ubiquitin-Protein Ligases Ciências Médicas::Medicina Básica |
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| Ano: | 2018 |
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| País: | Portugal |
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| Tipo de documento: | artigo |
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| Tipo de acesso: | acesso aberto |
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| Instituição associada: | Universidade do Minho |
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| Idioma: | inglês |
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| Origem: | RepositóriUM - Universidade do Minho |
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