Please use this identifier to cite or link to this item: https://hdl.handle.net/1822/62339

TitleGeneration 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
Author(s)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
KeywordsAnimals
Cell Culture Techniques
Cell Line
Glucosylceramidase
Humans
Induced Pluripotent Stem Cells
Male
Mice
Middle Aged
Mutation
Parkinson Disease
Issue dateJan-2019
PublisherElsevier
JournalStem Cell Research
CitationGustavsson, 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.
Abstract(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.
TypeArticle
URIhttps://hdl.handle.net/1822/62339
DOI10.1016/j.scr.2018.101373
ISSN1873-5061
e-ISSN1876-7753
Publisher versionhttps://www.sciencedirect.com/science/article/pii/S1873506118303088
Peer-Reviewedyes
AccessOpen access
Appears in Collections:ICVS - Artigos em revistas internacionais / Papers in international journals

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