Please use this identifier to cite or link to this item: http://hdl.handle.net/1822/57889

TitleGeneration of an induced pluripotent stem cell line (CSC-44) from a Parkinson's disease patient carrying a compound heterozygous mutation (c.823C>T and EX6 del) in the PARK2 gene
Author(s)Marote, Ana
Pomeshchik, Yuriy
Goldwurm, Stefano
Collin, Anna
Lamas, Nuno Jorge
Pinto, Luísa
Salgado, A. J.
Roybon, Laurent
KeywordsAdult
Aged
Cell Differentiation
Cells, Cultured
Cellular Reprogramming
Female
Heterozygote
Humans
Induced Pluripotent Stem Cells
Mutation
Parkinson Disease
Ubiquitin-Protein Ligases
Issue dateMar-2018
PublisherElsevier
JournalStem Cell Research
CitationMarote, A., Pomeshchik, Y., Goldwurm, S., et. al.(2018). Generation of an induced pluripotent stem cell line (CSC-44) from a Parkinson's disease patient carrying a compound heterozygous mutation (c. 823C> T and EX6 del) in the PARK2 gene. Stem cell research, 27, 90-94
Abstract(s)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.
TypeJournal editorial
URIhttp://hdl.handle.net/1822/57889
DOI10.1016/j.scr.2018.01.006
ISSN1873-5061
e-ISSN1876-7753
Publisher versionhttps://www.sciencedirect.com/science/article/pii/S1873506118300060
Peer-Reviewedyes
AccessOpen access
Appears in Collections:ICVS - Artigos em Revistas Internacionais com Referee

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