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

doi:10.1016/j.scr.2018.01.022

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

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Campo DC	Valor	Idioma
dc.contributor.author	Marote, Ana	por
dc.contributor.author	Pomeshchik, Yuriy	por
dc.contributor.author	Collin, Anna	por
dc.contributor.author	Goldwurm, Stefano	por
dc.contributor.author	Lamas, Nuno J.	por
dc.contributor.author	Pinto, Luísa	por
dc.contributor.author	Salgado, A. J.	por
dc.contributor.author	Roybon, Laurent	por
dc.date.accessioned	2019-01-07T17:10:43Z	-
dc.date.available	2019-01-07T17:10:43Z	-
dc.date.issued	2018	-
dc.identifier.citation	Marote, 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	por
dc.identifier.issn	1873-5061	-
dc.identifier.uri	https://hdl.handle.net/1822/57877	-
dc.description.abstract	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.	por
dc.description.sponsorship	We are greatly thankful to AnnaKarin Olden and Marianne Juhlin, for their technical assistance and 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 fibroblasts samples. This work was supported by the Strategic Research Environment MultiPark at Lund University, the strong research environment BAGADILICO (grant 349-2007-8626), the Swedish Parkinson Foundation (Parkinsonfonden, grant 889/16), the Swedish Research Council (grant 2015-03684 to LR) and Finnish Cultural Foundation (grant 00161167 to YP). We also acknowledge the Portuguese Foundation for Science and Technology for the doctoral fellowship - PDE/BDE/113598/2015 to AM and IF Starting and Development Grants to LP and AJS (IF/00111/2013 and IF/01079/2014), respectively.	por
dc.language.iso	eng	por
dc.publisher	Elsevier 1	por
dc.relation	PDE/BDE/113598/2015	-
dc.rights	openAccess	por
dc.subject	Aged	por
dc.subject	Animals	por
dc.subject	Cell Culture Techniques	por
dc.subject	Cell Line	por
dc.subject	Female	por
dc.subject	Humans	por
dc.subject	Induced Pluripotent Stem Cells	por
dc.subject	Leucine-Rich Repeat Serine-Threonine Protein Kinase-2	por
dc.subject	Mice	por
dc.subject	Mutation	por
dc.subject	Parkinson Disease	por
dc.title	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	por
dc.type	article	por
dc.peerreviewed	yes	por
dc.relation.publisherversion	https://www.sciencedirect.com/science/article/pii/S187350611830028X	por
oaire.citationStartPage	44	por
oaire.citationEndPage	47	por
oaire.citationVolume	28	por
dc.identifier.eissn	1876-7753	-
dc.identifier.doi	10.1016/j.scr.2018.01.022	por
dc.identifier.pmid	29414418	por
dc.subject.fos	Ciências Médicas::Medicina Básica	por
dc.description.publicationversion	info:eu-repo/semantics/publishedVersion	por
dc.subject.wos	Science & Technology	por
sdum.journal	Stem Cell Research	por
Aparece nas coleções:	ICVS - Artigos em revistas internacionais / Papers in international journals

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