Generation of an induced pluripotent stem cell line (GIBHi004-A) from a Parkinson's disease patient with mutant DJ-1/PARK7 (p.L10P)

被引：2
|
作者：
Li, Yunpan [1 ,2 ,3 ]
Ibanez, David P. [1 ,2 ,3 ,4 ]
Fan, Wenxia [5 ]
Zhao, Ping [6 ]
Chen, Shuhan [1 ,2 ,3 ,4 ]
Abdul, Mazid Md [1 ,2 ,3 ]
Jiang, Yu [1 ,2 ,3 ]
Fu, Lixin [1 ,2 ,3 ,4 ]
Luo, Zhiwei [5 ]
Liu, Zhenhua [7 ,8 ]
Yang, Yueli [9 ]
Guo, Jifeng [7 ,8 ]
Volpe, Giacomo [1 ,2 ,3 ]
Kanwal, Shahzina [1 ,2 ,3 ]
Wang, Dongye [1 ,2 ,3 ]
Tang, Beisha [7 ,8 ]
Li, Wenjuan [1 ,2 ,3 ,5 ]
机构：
[1] Chinese Acad Sci, Guangzhou Inst Biomed & Hlth, Lab Integrat Biol, Guangzhou 510530, Peoples R China
[2] Key Lab Regenerat Biol, Guangzhou 510530, Peoples R China
[3] Guangdong Prov Key Lab Stem Cells & Regenerat Med, Guangzhou 510530, Peoples R China
[4] Univ Chinese Acad Sci, Beijing 100049, Peoples R China
[5] Guangzhou Med Univ, Guangzhou 511436, Peoples R China
[6] Guangzhou Regenerat Med & Hlth Guangdong Lab, Guangzhou 510005, Peoples R China
[7] Cent South Univ, Xiangya Hosp, Dept Neurol, Changsha 410008, Peoples R China
[8] Cent South Univ, Natl Clin Res Ctr Geriatr Dis, Changsha 410008, Peoples R China
[9] Jilin Univ, Coll Vet Med, Changchun 130062, Peoples R China
来源：
STEM CELL RESEARCH | 2020年 / 46卷
基金：
中国国家自然科学基金; 中国博士后科学基金;
关键词：
DJ-1;
D O I：
10.1016/j.scr.2020.101845
中图分类号：
Q813 [细胞工程];
学科分类号：
摘要：
Mutations occurring in the gene body of PARK7 (encoding DJ-1/PARK7) cause autosomal recessive early-onset parkinsonism (AREP). These mutations produce a loss of function and have been reported to lead to dopaminergic neuron degeneration in the substantia nigra. However, the underlying mechanisms are largely unknown. Here, we report the generation of a patient-derived induced pluripotent stem cell (iPSC) line carrying mutant DJ-1 (p.L10P). This cell line is a valuable tool for in vitro Parkinson's disease (PD) modeling and mechanistic studies.
引用
收藏
页数：5
相关论文
共 50 条
  • [21] 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
  • [22] DJ-1/PARK7, But Not Its L166P Mutant Linked to Autosomal Recessive Parkinsonism, Modulates the Transcriptional Activity of the Orphan Nuclear Receptor Nurr1 In Vitro and In Vivo
    Lu, Lingling
    Zhao, Shasha
    Gao, Ge
    Sun, Xiaohong
    Zhao, Huanying
    Yang, Hui
    MOLECULAR NEUROBIOLOGY, 2016, 53 (10) : 7363 - 7374
  • [23] Generation and characterization of a human induced pluripotent stem cell (iPSC) line (HEBHMUi001-A) from a sporadic Parkinson's disease patient
    Ma, Jun
    Guo, Ruiyun
    Song, Yongzhou
    Zhang, Jing
    Feng, Baofeng
    Amponsah, Asiamah Ernest
    Kong, Desheng
    He, Jingjing
    Zhang, Wei
    Liu, Aijing
    Wei, Lin
    Shen, Sanbing
    O'Brien, Timothy
    Cui, Huixian
    STEM CELL RESEARCH, 2019, 36
  • [24] Molecular basis for the structural instability of human DJ-1 induced by the L166P mutation associated with Parkinson's disease
    Anderson, Peter C.
    Daggett, Valerie
    BIOCHEMISTRY, 2008, 47 (36) : 9380 - 9393
  • [25] DJ-1/PARK7, But Not Its L166P Mutant Linked to Autosomal Recessive Parkinsonism, Modulates the Transcriptional Activity of the Orphan Nuclear Receptor Nurr1 In Vitro and In Vivo
    Lingling Lu
    Shasha Zhao
    Ge Gao
    Xiaohong Sun
    Huanying Zhao
    Hui Yang
    Molecular Neurobiology, 2016, 53 : 7363 - 7374
  • [26] 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
    Marote, Ana
    Pomeshchik, Yuriy
    Collin, Anna
    Goldwurm, Stefano
    Lamas, Nuno J.
    Pinto, Luisa
    Salgado, Antonio J.
    Roybon, Laurent
    STEM CELL RESEARCH, 2018, 28 : 44 - 47
  • [27] Generation of an induced pluripotent stem cell line (CSC-46) from a patient with Parkinson's disease carrying a novel p.R301C mutation in the GBA gene
    Gustavsson, Nadja
    Marote, Ana
    Pomeshchik, Yuriy
    Russ, Kaspar
    Azevedo, Carla
    Chumarina, Margarita
    Goldwurm, Stefano
    Collin, Anna
    Pinto, Luisa
    Salgado, Antonio J.
    Klementieva, Oxana
    Roybon, Laurent
    Savchenko, Ekaterina
    STEM CELL RESEARCH, 2019, 34
  • [28] Establishment of PSEN1 mutant induced pluripotent stem cell (iPSC) line from an Alzheimer's disease (AD) female patient
    Nemes, Csilla
    Varga, Eszter
    Tancos, Zsuzsanna
    Bock, Istvan
    Francz, Barbara
    Kobolak, Julianna
    Dinnyes, Andras
    STEM CELL RESEARCH, 2016, 17 (01) : 69 - 71
  • [29] Generation of induced pluripotent stem cells (iPSCs) from an Alzheimer's disease patient carrying a L150P mutation in PSEN-1
    Tubsuwan, Alisa
    Pires, Carlota
    Rasmussen, Mikkel A.
    Schmid, Benjamin
    Nielsen, Jorgen E.
    Hjermind, Lena E.
    Hall, Vanessa
    Nielsen, Troels T.
    Waldemar, Gunhild
    Hyttel, Poul
    Clausen, Christian
    Kitiyanant, Narisorn
    Freude, Kristine K.
    Holst, Bjorn
    STEM CELL RESEARCH, 2016, 16 (01) : 110 - 112
  • [30] Generation of a human induced pluripotent stem cell line (UEFi004-A) from a patient with progressive myoclonic epilepsy type 1 (EPM1)
    Singh, Shekhar
    Plotnikova, Lidiia
    Karvonen, Kalle
    Ryytty, Sanna
    Hypponen, Jelena
    Kalviainen, Reetta
    Hamalainen, Riikka H.
    STEM CELL RESEARCH, 2023, 73
12345