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

被引：4
|
作者：
Marote, Ana [1 ,2 ]
Pomeshchik, Yuriy [3 ,4 ,5 ]
Collin, Anna [6 ]
Goldwurm, Stefano [7 ]
Lamas, Nuno J. [1 ,2 ,9 ]
Pinto, Luisa [1 ,2 ,8 ]
Salgado, Antonio J. [1 ,2 ]
Roybon, Laurent [3 ,4 ,5 ]
机构：
[1] Univ Minho, Sch Med, Life & Hlth Sci Res Inst ICVS, Braga, Portugal
[2] PT Govt Associate Lab, ICVS 3Bs, Braga, Guimaraes, Portugal
[3] Lund Univ, Dept Expt Med Sci, Wallenberg Neurosci Ctr, Stem Cell Lab CNS Dis Modeling, BMC A10, Lund, Sweden
[4] Lund Univ, Strateg Res Area MultiPk, Lund, Sweden
[5] Lund Univ, Lund Stem Cell Ctr, Lund, Sweden
[6] Off Med Serv, Dept Clin Genet & Pathol, Div Lab Med, Lund, Sweden
[7] ASST PINI CTO, Parkinson Inst, Milan, Italy
[8] Behav & Mol Lab, BnML, Braga, Portugal
[9] Braga Hosp, Dept Anat Pathol, Braga, Portugal
来源：
STEM CELL RESEARCH | 2018年 / 28卷
基金：
瑞典研究理事会;
关键词：
D O I：
10.1016/j.scr.2018.01.022
中图分类号：
Q813 [细胞工程];
学科分类号：
摘要：
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. (c) 2017 Published by Elsevier B.V.
引用
收藏
页码：44 / 47
页数：4
相关论文
共 50 条
  • [41] Mitochondrial impairment in patients with Parkinson disease with the G2019S mutation in LRRK2
    Mortiboys, Heather
    Johansen, Krisztina K.
    Aasly, Jan O.
    Bandmann, Oliver
    NEUROLOGY, 2010, 75 (22) : 2017 - 2020
  • [42] The prevalence of cancer in patients with Parkinson's disease who are carriers of the G2019S mutation in the LRRK2 gene
    Mirelman, A.
    Gurevich, T.
    Thaler, A.
    Yasinovsky, K.
    Doyev, Y.
    Bar Gil, L.
    Bar Shira, A.
    Orr-Urtreger, A.
    Giladi, N.
    MOVEMENT DISORDERS, 2012, 27 : S463 - S463
  • [43] The autonomic profile of Ashkenazi Jews Parkinson's disease carriers of G2019S mutation in LRRK2 gene
    Gurevich, T.
    Mirelman, A.
    Alcalay, R.
    Bar Shira, A.
    Yasinovsky, K.
    Zalis, M.
    Shkedy, A.
    Pullman, R. Saunders
    Marder, K.
    Bressman, S.
    Orr-Utreger, A.
    Giladi, N.
    MOVEMENT DISORDERS, 2014, 29 : S51 - S52
  • [44] LRRK2 G2019S and Parkinson's disease: insight from Neuroinflammation
    Yao, Xiao-Yan
    Guan, Li-Na
    Chen, Qi
    Ren, Chao
    POSTGRADUATE MEDICAL JOURNAL, 2024, 100 (1179) : 4 - 11
  • [45] Development of a human induced pluripotent stemcell (iPSC) line froma Parkinson's disease patient carrying the N551K variant in LRRK2 gene
    Ma, Dongrui
    Ng, Ebonne Yulin
    Zeng, Li
    Lim, Christina Ying Yan
    Zhao, Yi
    Tan, Eng King
    STEM CELL RESEARCH, 2017, 18 : 51 - 53
  • [46] Generation of a human induced pluripotent stem cell line (CSC-40) from a Parkinson's disease patient with a PINK1 p.Q456X mutation
    Russ, Kaspar
    Marote, Ana
    Savchenko, Ekaterina
    Collin, Anna
    Goldwurm, Stefano
    Pomeshchik, Yuriy
    Roybon, Laurent
    STEM CELL RESEARCH, 2018, 27 : 61 - 64
  • [47] Generation of an induced pluripotent stem cell line (HMSCATi004-A) from an early onset Parkinson's disease patient with PRKN gene mutation
    Cheng, Jingke
    Zhai, Yingtong
    Guo, Xiangge
    Wang, Xumeng
    Ma, Min
    Ren, Xin
    Wang, Shan
    Cui, Huixian
    Ren, Qian
    STEM CELL RESEARCH, 2024, 81
  • [48] Fall Risk and Gait in Parkinson's Disease: The Role of the LRRK2 G2019S Mutation
    Mirelman, Anat
    Heman, Talia
    Yasinovsky, Kira
    Thaler, Avner
    Gurevich, Tanya
    Marder, Karen
    Bressman, Susan
    Bar-Shira, Anat
    Orr-Urtreger, Avi
    Giladi, Nir
    Hausdorff, Jeffrey M.
    MOVEMENT DISORDERS, 2013, 28 (12) : 1683 - 1690
  • [49] Leukocyte MAPK activity associated with the LRRK2 G2019S mutation and Parkinson's disease
    Aasly, Jan O.
    Toft, Mathias
    Kvam, Sylvia N.
    Farrer, Matthew J.
    White, Linda R.
    ANNALS OF NEUROLOGY, 2006, 60 : S9 - S9
  • [50] Escaping Parkinson's disease:: A neurologically healthy octogenarian with the LRRK2 G2019S mutation
    Kay, DM
    Kramer, P
    Higgins, D
    Zabetian, CP
    Payami, H
    MOVEMENT DISORDERS, 2005, 20 (08) : 1077 - 1078
12345