Utilize este identificador para referenciar este registo: https://hdl.handle.net/1822/57877

TítuloGeneration of an induced pluripotent stem cell line (CSC-41) from a Parkinson's disease patient carrying a p.G2019S mutation in the LRRK2 gene
Autor(es)Marote, Ana
Pomeshchik, Yuriy
Collin, Anna
Goldwurm, Stefano
Lamas, Nuno J.
Pinto, Luísa
Salgado, A. J.
Roybon, Laurent
Palavras-chaveAged
Animals
Cell Culture Techniques
Cell Line
Female
Humans
Induced Pluripotent Stem Cells
Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
Mice
Mutation
Parkinson Disease
Data2018
EditoraElsevier 1
RevistaStem Cell Research
CitaçãoMarote, A., Pomeshchik, Y., Collin, A., Goldwurm, S., et. al.(2018). Generation of an induced pluripotent stem cell line (CSC-41) from a Parkinson's disease patient carrying a p. G2019S mutation in the LRRK2 gene. Stem cell research, 28, 44-47
Resumo(s)The leucine-rich repeat kinase 2 (LRRK2) p.G2019S mutation is the most common genetic cause of Parkinson's disease (PD). An induced pluripotent stem cell (iPSC) line CSC-41 was generated from a 75-year old patient diagnosed with PD caused by a p.G2019S mutation in LRRK2. Skin fibroblasts were reprogrammed using a non-integrating Sendai virus-based technology to deliver OCT3/4, SOX2, c-MYC and KLF4 transcription factors. The generated iPSC line exhibits expression of common pluripotency markers, differentiates into the three germ layers and has a normal karyotype. The iPSC line can be used to explore the association between LRRK2 mutation and PD.
TipoArtigo
URIhttps://hdl.handle.net/1822/57877
DOI10.1016/j.scr.2018.01.022
ISSN1873-5061
e-ISSN1876-7753
Versão da editorahttps://www.sciencedirect.com/science/article/pii/S187350611830028X
Arbitragem científicayes
AcessoAcesso aberto
Aparece nas coleções:ICVS - Artigos em revistas internacionais / Papers in international journals

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