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
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 r...
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| Format: | Article |
| Language: | English |
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Elsevier
2018-04-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S187350611830028X |
| _version_ | 1811282996371652608 |
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| author | Ana Marote Yuriy Pomeshchik Anna Collin Stefano Goldwurm Nuno J. Lamas Luísa Pinto António J. Salgado Laurent Roybon |
| author_facet | Ana Marote Yuriy Pomeshchik Anna Collin Stefano Goldwurm Nuno J. Lamas Luísa Pinto António J. Salgado Laurent Roybon |
| author_sort | Ana Marote |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-13T02:02:34Z |
| format | Article |
| id | doaj.art-3c1307d922004b9b8af5ea83b6878ec0 |
| institution | Directory Open Access Journal |
| issn | 1873-5061 |
| language | English |
| last_indexed | 2024-04-13T02:02:34Z |
| publishDate | 2018-04-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-3c1307d922004b9b8af5ea83b6878ec02022-12-22T03:07:34ZengElsevierStem Cell Research1873-50612018-04-01284447Generation of an induced pluripotent stem cell line (CSC-41) from a Parkinson's disease patient carrying a p.G2019S mutation in the LRRK2 geneAna Marote0Yuriy Pomeshchik1Anna Collin2Stefano Goldwurm3Nuno J. Lamas4Luísa Pinto5António J. Salgado6Laurent Roybon7Life and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho, Braga, Portugal; ICVS/3B's, PT Government Associate Laboratory, Braga, Guimarães, PortugalStem Cell Laboratory for CNS Disease Modeling, Wallenberg Neuroscience Center, Department of Experimental Medical Science, BMC A10, Lund University, Lund, Sweden; Strategic Research Area MultiPark, Lund University, Lund, Sweden; Lund Stem Cell Center, Lund University, Lund, SwedenDepartment of Clinical Genetics and Pathology, Office for Medical Services, Division of Laboratory Medicine, Lund, SwedenParkinson Institute, ASST PINI-CTO, Milan, ItalyLife and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho, Braga, Portugal; ICVS/3B's, PT Government Associate Laboratory, Braga, Guimarães, Portugal; Anatomic Pathology Department, Braga Hospital, Braga, PortugalLife and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho, Braga, Portugal; ICVS/3B's, PT Government Associate Laboratory, Braga, Guimarães, Portugal; BnML, Behavioral and Molecular Laboratory, Braga, PortugalLife and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho, Braga, Portugal; ICVS/3B's, PT Government Associate Laboratory, Braga, Guimarães, PortugalStem Cell Laboratory for CNS Disease Modeling, Wallenberg Neuroscience Center, Department of Experimental Medical Science, BMC A10, Lund University, Lund, Sweden; Strategic Research Area MultiPark, Lund University, Lund, Sweden; Lund Stem Cell Center, Lund University, Lund, Sweden; Corresponding author at: Stem Cell Laboratory for CNS Disease Modeling, Wallenberg Neuroscience Center, Department of Experimental Medical Science, BMC A10, Lund University, Lund, Sweden.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.http://www.sciencedirect.com/science/article/pii/S187350611830028X |
| spellingShingle | Ana Marote Yuriy Pomeshchik Anna Collin Stefano Goldwurm Nuno J. Lamas Luísa Pinto António J. Salgado Laurent Roybon 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 |
| 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 |
| title_full | 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 |
| title_fullStr | 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 |
| title_full_unstemmed | 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 |
| title_short | 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 |
| title_sort | 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 |
| url | http://www.sciencedirect.com/science/article/pii/S187350611830028X |
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