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: | Laurent Roybon, Ana Marote, Carla Azevedo, António J. Salgado, Nadja Gustavsson, Kaspar Russ, Stefano Goldwurm, Ekaterina Savchenko, Oxana Klementieva, Luísa Pinto, Margarita Chumarina, Anna Collin, Yuriy Pomeshchik |
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| Přispěvatelé: | Universidade do Minho |
| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Male Parkinson's disease Medicina Básica [Ciências Médicas] Induced Pluripotent Stem Cells Cell Culture Techniques medicine.disease_cause Cell Line 03 medical and health sciences Kruppel-Like Factor 4 Mice 0302 clinical medicine SOX2 medicine Animals Humans Induced pluripotent stem cell lcsh:QH301-705.5 Mutation Science & Technology biology Parkinson Disease Cell Biology General Medicine Middle Aged biology.organism_classification medicine.disease Sendai virus 3. Good health 030104 developmental biology lcsh:Biology (General) Cell culture KLF4 Ciências Médicas::Medicina Básica Cancer research Glucosylceramidase Glucocerebrosidase 030217 neurology & neurosurgery Developmental Biology |
| Zdroj: | Stem Cell Research, Vol 34, Iss, Pp-(2019) Repositório Científico de Acesso Aberto de Portugal Repositório Científico de Acesso Aberto de Portugal (RCAAP) instacron:RCAAP |
| ISSN: | 1876-7753 |
| Popis: | 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. We thank AnnaKarin Olden, Anna Hammarberg and Marianne Juhlin, for their technical support. We are also thankful to the 'Cell Line and DNA Biobank from Patients affected by Genetic Diseases' (Istituto G. Gaslini, Genova, Italy) and the 'Parkinson Institute Biobank, members of the Telethon Network of Genetic Biobanks (http://biobanknetwork.telethon.it; project no. GTB12001) funded by Telethon Italy, for providing fibroblast samples. This work was supported by the Strategic Research Environment MultiPark at Lund University, the Swedish Research Council (grant 2015-03684 to LR), Finnish Cultural Foundation (grant 00161167 to YP), Portuguese Foundation for Science and Technology for the doctoral fellowship - PDE/BDE/113598/2015 to AM and IF Starting and Development Grant to LP and AJS (IF/01079/2014 and IF/00111/2013). |
| Databáze: | OpenAIRE |
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