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

• Published in: Stem cell research Vol. 28; pp. 44 - 47
• Main Authors: Marote, Ana, Pomeshchik, Yuriy, Collin, Anna, Goldwurm, Stefano, Lamas, Nuno J., Pinto, Luísa, Salgado, António J., Roybon, Laurent
• Format: Journal Article
• Language: English
• Published: England Elsevier B.V 01.04.2018; Elsevier
• Subjects: Aged; Animals; Basic Medicine; Cell and Molecular Biology; Cell Culture Techniques; Cell Line; Cell- och molekylärbiologi; Ciências Médicas; Female; Humans; Induced Pluripotent Stem Cells; Medical and Health Sciences; Medicin och hälsovetenskap; Medicina Básica; Medicinska och farmaceutiska grundvetenskaper; Mice; Mutation; Parkinson Disease; Science & Technology
• ISSN: 1873-5061; 1876-7753
• DOI: 10.1016/j.scr.2018.01.022

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.