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

页码：44 / 47

页数：4

共 50 条

[31] The LRRK2 G2019S mutation predisposes Parkinson's disease patients to cancer
Inzelberg, R.
Cohen, O.
Aharon-Peretz, J.
Schlesinger, I.
Gershoni-Baruch, R.
Djaldetti, R.
Nitsan, Z.
Ephraty, L.
Tunkel, O.
Kozlova, E.
Inzelberg, L.
Kaplan, N.
Schechtman, E.
Friedman, E.
Hassin-Baer, S.
MOVEMENT DISORDERS, 2011, 26 : S310 - S310
[32] The G2019S LRRK2 mutation is rare in Korean patients with Parkinson's disease
Cho, J.
Kim, H.
Park, S.
Jeon, B.
MOVEMENT DISORDERS, 2006, 21 : S402 - S402
[33] G2019S LRRK2 mutation in familial and sporadic Parkinson's disease in Russia
Pchelina, Sofya N.
Yakimovskii, Andrei F.
Ivanova, Olga N.
Emelianov, Anton K.
Zakharchuk, Andrei H.
Schwarzman, Alexander L.
MOVEMENT DISORDERS, 2006, 21 (12) : 2234 - 2236
[34] Differential Inhibition of LRRK2 in Parkinson's Disease Patient Blood by a G2019S Selective LRRK2 Inhibitor
Bright, Jessica M.
Carlisle, Holly J.
Toda, Alyssa M. A.
Murphy, Molly
Molitor, Tyler P.
Wren, Paul
Andruska, Kristin M.
Liu, Enchi
Barlow, Carrolee
MOVEMENT DISORDERS, 2021, 36 (06) : 1362 - 1371
[35] Genetic screening for LRRK2 gene G2019S mutation in Parkinson's disease patients from Southern Italy
De Rosa, Anna
Criscuolo, Chiara
Mancini, Pietro
De Martino, Marina
Giordano, Aria Anna
Pappata, Sabina
Filla, Alessandro
De Michele, Giuseppe
PARKINSONISM & RELATED DISORDERS, 2009, 15 (03) : 242 - 244
[36] The LRRK2 G2019S mutation as the cause of Parkinson’s disease in Ashkenazi Jews
Avner Thaler
Elissa Ash
Ziv Gan-Or
Avi Orr-Urtreger
Nir Giladi
Journal of Neural Transmission, 2009, 116 : 1473 - 1482
[37] The G2019S LRRK2 mutation is rare in Korean patients with Parkinson's disease
Cho, Jin-Whan
Kim, Sung-Yeon
Park, Sung-Sup
Kim, Han-Jun
Ahn, Tae-Beom
Kim, Jong-Min
Jeon, Beom-Seok
CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES, 2007, 34 (01) : 53 - 55
[38] Generation of an integration-free induced pluripotent stem cell line (CSC-43) from a patient with sporadic Parkinson's disease
Marote, Ana
Pomeshchik, Yuriy
Goldwurm, Stefano
Collin, Anna
Lamas, Nuno J.
Pinto, Luisa
Salgado, Antonio J.
Roybon, Laurent
STEM CELL RESEARCH, 2018, 27 : 82 - 85
[39] Penetrance Estimate of LRRK2 p.G2019S Mutation in Individuals of Non-Ashkenazi Jewish Ancestry
Lee, Annie J.
Wang, Yuanjia
Alcalay, Roy N.
Mejia-Santana, Helen
Saunders-Pullman, Rachel
Bressman, Susan
Corvol, Jean-Christophe
Brice, Alexis
Lesage, Suzanne
Mangone, Graziella
Tolosa, Eduardo
Pont-Sunyer, Claustre
Vilas, Dolores
Schuele, Birgitt
Kausar, Farah
Foroud, Tatiana
Berg, Daniela
Brockmann, Kathrin
Goldwurm, Stefano
Siri, Chiara
Asselta, Rosanna
Ruiz-Martinez, Javier
Mondragon, Elisabet
Marras, Connie
Ghate, Taneera
Giladi, Nir
Mirelman, Anat
Marder, Karen
MOVEMENT DISORDERS, 2017, 32 (10) : 1432 - 1438
[40] Derivation of human induced pluripotent stem cell (iPSC) line with LRRK2 gene R1398H variant in Parkinson's disease
Ma, Dongrui
Tio, Murni
Ng, Shin Hui
Zeng, Li
Lim, Christina Ying Yan
Zhao, Yi
Tan, Eng King
STEM CELL RESEARCH, 2017, 18 : 48 - 50

← 1 2 3 4 5 →