Utilize este identificador para referenciar este registo:
https://hdl.handle.net/1822/62339
Título: | Generation of an induced pluripotent stem cell line (CSC-46) from a patient with Parkinson's disease carrying a novel p.R301C mutation in the GBA gene |
Autor(es): | Gustavsson, Nadja Marote, Ana Pomeshchik, Yuriy Russ, Kaspar Azevedo, Carla Chumarina, Margarita Goldwurm, Stefano Collin, Anna Pinto, Luísa Salgado, A. J. Klementieva, Oxana Roybon, Laurent Savchenko, Ekaterina |
Palavras-chave: | Animals Cell Culture Techniques Cell Line Glucosylceramidase Humans Induced Pluripotent Stem Cells Male Mice Middle Aged Mutation Parkinson Disease |
Data: | Jan-2019 |
Editora: | Elsevier |
Revista: | Stem Cell Research |
Citação: | Gustavsson, N., Marote, A., Pomeshchik, Y., et. al. (2019). Generation of an induced pluripotent stem cell line (CSC-46) from a patient with Parkinson's disease carrying a novel p. R301C mutation in the GBA gene. Stem cell research, 34, 101373. |
Resumo(s): | Mutations in the glucocerebrosidase (GBA) gene have been associated with the development of Parkinson's disease (PD). An induced pluripotent stem cell (iPSC) line was generated from a 60-year old patient diagnosed with PD and carrying a new mutation variant p.R301C in GBA. Using non-integrating Sendai virus-based technology, we utilized OCT3/4, SOX2, c-MYC and KLF4 transcription factors to reprogram skin fibroblasts into iPSCs. The generated iPSC line retained the mutation, displayed expression of common pluripotency markers, differentiated into the three germ layers, and exhibited normal karyotype. The iPSC line can be further used for studying PD pathogenesis. |
Tipo: | Artigo |
URI: | https://hdl.handle.net/1822/62339 |
DOI: | 10.1016/j.scr.2018.101373 |
ISSN: | 1873-5061 |
e-ISSN: | 1876-7753 |
Versão da editora: | https://www.sciencedirect.com/science/article/pii/S1873506118303088 |
Arbitragem científica: | yes |
Acesso: | Acesso aberto |
Aparece nas coleções: | ICVS - Artigos em revistas internacionais / Papers in international journals |
Ficheiros deste registo:
Ficheiro | Descrição | Tamanho | Formato | |
---|---|---|---|---|
GENERA.PDF | 1,25 MB | Adobe PDF | Ver/Abrir |