Please use this identifier to cite or link to this item:

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
Cell Culture Techniques
Cell Line
Induced Pluripotent Stem Cells
Middle Aged
Parkinson Disease
Issue dateJan-2019
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.
Publisher version
AccessOpen access
Appears in Collections:ICVS - Artigos em revistas internacionais / Papers in international journals

Files in This Item:
File Description SizeFormat 
GENERA.PDF1,25 MBAdobe PDFView/Open

Partilhe no FacebookPartilhe no TwitterPartilhe no DeliciousPartilhe no LinkedInPartilhe no DiggAdicionar ao Google BookmarksPartilhe no MySpacePartilhe no Orkut
Exporte no formato BibTex mendeley Exporte no formato Endnote Adicione ao seu ORCID