Generation of human induced pluripotent stem cell lines from sporadic, sporadic frontotemporal dementia, familial SOD1, and familial C9orf72 amyotrophic lateral sclerosis (ALS) patients

被引:1
|
作者
Jiang, Leanne [1 ,2 ,3 ]
Tracey, Timothy J. [1 ]
Gill, Melinder K. [4 ]
Howe, Stephanie L. [1 ]
Power, Dominique T. [1 ]
Bharti, Vanda [5 ]
McCombe, Pamela A. [6 ,7 ]
Henderson, Robert D. [6 ,7 ]
Steyn, Frederik J. [4 ,6 ]
Ngo, Shyuan T. [1 ,6 ]
机构
[1] Univ Queensland, Australian Inst Bioengn & Nanotechnol, Brisbane, Australia
[2] Perron Inst Neurol & Translat Sci, Perth, Australia
[3] Univ Western Australia, Sch Biol Sci, Perth, Australia
[4] Univ Queensland, Sch Biomed Sci, Brisbane, Qld, Australia
[5] Univ Queensland, Inst Mol Biosci, Brisbane, Australia
[6] Royal Brisbane & Womens Hosp, Dept Neurol, Brisbane, Qld, Australia
[7] Univ Queensland, Ctr Clin Res, Brisbane, Qld, Australia
关键词
D O I
10.1016/j.scr.2024.103447
中图分类号
Q813 [细胞工程];
学科分类号
摘要
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease. Clinical heterogeneity and complex genetics pose challenges to understanding disease mechanisms and producing effective cures. To model clinical heterogeneity, we generated human induced pluripotent stem cells (iPSCs) from two sporadic ALS patients (sporadic ALS and sporadic ALS with frontotemporal dementia), two familial ALS patients (familial SOD1 mutation positive and familial C9orf72 repeat expansion positive), and four age- and sex -matched healthy controls. These iPSCs can be used to generate 2D and 3D in vitro models of ALS to investigate mechanisms of disease and screen for therapeutics.
引用
收藏
页数:6
相关论文
共 50 条
  • [21] VAPB and C9orf72 mutations in 1 familial amyotrophic lateral sclerosis patient
    van Blitterswijk, Marka
    van Es, Michael A.
    Koppers, Max
    van Rheenen, Wouter
    Medic, Jelena
    Schelhaas, Helenius J.
    van der Kooi, Anneke J.
    de Visser, Marianne
    Veldink, Jan H.
    van den Berg, Leonard H.
    NEUROBIOLOGY OF AGING, 2012, 33 (12)
  • [22] Genetic analysis of the SOD1 and C9ORF72 genes in Hungarian patients with amyotrophic lateral sclerosis
    Tripolszki, Kornelia
    Csanyi, Bernadett
    Nagy, Dora
    Ratti, Antonia
    Tiloca, Cinzia
    Silani, Vincenzo
    Kereszty, Eva
    Torok, Nora
    Vecsei, Laszlo
    Engelhardt, Jozsef I.
    Klivenyi, Peter
    Nagy, Nikoletta
    Szell, Marta
    NEUROBIOLOGY OF AGING, 2017, 53 : 195.e1 - 195.e5
  • [23] A hexanucleotide repeat expansion in C9ORF72 causes familial and sporadic ALS in Taiwan
    Tsai, Ching-Paio
    Soong, Bing-Wen
    Tu, Pang-Hsien
    Lin, Kon-Ping
    Fuh, Jong-Ling
    Tsai, Pei-Chien
    Lu, Yi-Chun
    Lee, I-Hui
    Lee, Yi-Chung
    NEUROBIOLOGY OF AGING, 2012, 33 (09) : 2232.e11 - 2232.e18
  • [24] Generation of two induced pluripotent stem cell lines from two sporadic amyotrophic lateral sclerosis patients
    Wen, Shan
    Fu, Shujie
    Gao, Chong
    Lei, Kai
    Liu, Xiaodong
    STEM CELL RESEARCH, 2024, 74
  • [25] C9orf72 hexanucleotide repeat expansions in Chinese sporadic amyotrophic lateral sclerosis
    He, Ji
    Tang, Lu
    Benyamin, Beben
    Shah, Sonia
    Hemani, Gib
    Liu, Rong
    Ye, Shan
    Liu, Xiaolu
    Ma, Yan
    Zhang, Huagang
    Cremin, Katie
    Leo, Paul
    Wray, Naomi R.
    Visscher, Peter M.
    Xu, Huji
    Brown, Matthew A.
    Bartlett, Perry F.
    Mangelsdorf, Marie
    Fan, Dongsheng
    NEUROBIOLOGY OF AGING, 2015, 36 (09) : 2660.e1 - 2660.e8
  • [26] High frequency of the expanded C9ORF72 hexanucleotide repeat in familial and sporadic Greek ALS patients
    Mok, Kin Y.
    Koutsis, Georgios
    Schottlaender, Lucia V.
    Polke, James
    Panas, Marios
    Houlden, Henry
    NEUROBIOLOGY OF AGING, 2012, 33 (08)
  • [27] Role of the C9ORF72 Gene in the Pathogenesis of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia
    Zongbing Hao
    Rui Wang
    Haigang Ren
    Guanghui Wang
    Neuroscience Bulletin, 2020, 36 : 1057 - 1070
  • [28] High frequency of the expanded C9ORF72 hexanucleotide repeat in familial and sporadic Greek ALS patients
    Koutsis, G.
    Mok, K.
    Schottlaender, L.
    Polke, J.
    Panas, M.
    Houlden, H.
    EUROPEAN JOURNAL OF NEUROLOGY, 2012, 19 : 726 - 726
  • [29] Clinical Update on C9orf72: Frontotemporal Dementia, Amyotrophic Lateral Sclerosis, and Beyond
    Saracino, Dario
    Le Ber, Isabelle
    FRONTOTEMPORAL DEMENTIAS: EMERGING MILESTONES OF THE 21ST CENTURY, 2021, 1281 : 67 - 76
  • [30] Frontotemporal lobar dementia and amyotrophic lateral sclerosis associated with c9orf72 expansion
    Le Ber, I.
    REVUE NEUROLOGIQUE, 2015, 171 (6-7) : 475 - 481