Generation of an induced pluripotent stem cell line (UCSCi002-A) from a patient with a variant in TARDBP gene associated with familial amyotrophic lateral sclerosis and frontotemporal dementia

被引：1
|
作者：
Martello, Francesco [1 ,2 ]
Lattante, Serena [1 ,2 ]
Doronzio, Paolo Niccolo [1 ,2 ]
Conte, Amelia [3 ,4 ]
Bisogni, Giulia [3 ,4 ]
Orteschi, Daniela [2 ]
Luigetti, Marco [2 ,5 ]
Marrucci, Maria Alessandra [6 ]
Zollino, Marcella [1 ,2 ]
Sabatelli, Mario [3 ,4 ]
Marangi, Giuseppe [1 ,2 ]
机构：
[1] Univ Cattolica Sacro Cuore, Sect Genom Med, Dept Life Sci & Publ Hlth, Rome, Italy
[2] Fdn Policlin Univ A Gemelli IRCCS, Dept Lab & Infect Dis Sci, Unit Med Genet, Rome, Italy
[3] Fdn Policlin Univ A Gemelli IRCCS, Adult NEMO Clin Ctr, Unit Neurol, Dept Aging Neurol Orthoped & Head Neck Sci, Rome, Italy
[4] Univ Cattolica Sacro Cuore, Dept Neurosci, Sect Neurol, Fac Med & Surg, Rome, Italy
[5] Fdn Policlin Univ A Gemelli IRCCS, Dept Aging Neurol Orthoped & Head Neck Sci, Unit Neurol, Rome, Italy
[6] Univ Cattolica Sacro Cuore, Sect Legal Med, Dept Healthcare Surveillance & Bioeth, Rome, Italy
来源：
STEM CELL RESEARCH | 2022年 / 62卷
关键词：
TDP-43;
D O I：
10.1016/j.scr.2022.102825
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 that selectively affects motor neurons. In 20% of cases, ALS appears in comorbidity with frontotemporal dementia (FTD). We generated patient-derived-induced Pluripotent Stem Cells (iPSCs), from an ALS/FTD patient. The patient had a familial form of the disease and a missense variant in TARDBP gene. We used an established protocol based on Sendai virus to reprogram fibroblasts. We confirmed the stemness and the pluripotency of the iPSC clones, thus generating embryoid bodies. We believe that the iPSC line carrying a TARDBP mutation could be a valuable tool to investigate TDP-43 proteinopathy linked to ALS.
引用
收藏
页数：4
相关论文
共 50 条
  • [1] Generation of an induced pluripotent stem cell line (UCSCi001-A) from a patient with early-onset amyotrophic lateral sclerosis carrying a FUS variant
    Martello, Francesco
    Lattante, Serena
    Doronzio, Paolo Niccolo
    Conte, Amelia
    Bisogni, Giulia
    Orteschi, Daniela
    Pirozzi, Filomena
    Sabatelli, Mario
    Zollino, Marcella
    Marangi, Giuseppe
    STEM CELL RESEARCH, 2021, 55
  • [2] Generation of patient-specific pluripotent induced stem cell line UFRJi007-A from a Brazilian familial amyotrophic lateral sclerosis patient
    Gubert, Fernanda
    Vasques, Juliana F.
    Cozendey, Tatiane D.
    Domizi, Pablo
    Toledo, Maria Fernanda
    Kasai-Brunswick, Tais H.
    Hochman-Mendez, Camila
    Campos Junior, Mario
    Zembrzuski, Veronica Marques
    Loureiro, Marli P. S.
    Lima, Jose M. B.
    Gress, Claudio H.
    Cabello, Giselda M. K.
    Cabello, Pedro H.
    Borgonovo, Tamara
    Vaz, Isadora M.
    Silva, Rosane
    Mendez-Otero, Rosalia
    STEM CELL RESEARCH, 2019, 39
  • [3] Induced pluripotent stem cell line derived from a sporadic amyotrophic lateral sclerosis patient
    Feng, Baofeng
    Ma, Jun
    Amponsah, Asiamah Ernest
    Guo, Ruiyun
    Kong, Desheng
    He, Jingjing
    Jiang, Yawen
    Zhang, Wei
    Zhang, Zhanchi
    Song, Yongzhou
    Shen, Sanbing
    O'Brien, Timothy
    Cui, Huixian
    STEM CELL RESEARCH, 2020, 45
  • [4] In vitro modeling of amyotrophic lateral sclerosis with induced pluripotent stem cell technology-derived cell line ORIONi002-A
    Strnadel, Jan
    Dumortier, Hugo M.
    Hajduchova, Dominika
    Zahumenska, Romana
    Nosal, Vladimir
    Smolar, Marek
    Marcinek, Juraj
    Kalman, Michal
    Mersakova, Sandra
    Brany, Dusan
    Juhas, Stefan
    Juhasova, Jana
    Studenovska, Hana
    Mitruskova, Barbora
    Suroviakova, Stanislava
    Novakova, Slavomira
    Skovierova, Henrieta
    Kurca, Egon
    Pecova, Renata
    Plank, Lukas
    Halasova, Erika
    STEM CELL RESEARCH, 2022, 63
  • [5] Generation of human induced pluripotent stem cell lines from sporadic, sporadic frontotemporal dementia, familial SOD1, and familial C9orf72 amyotrophic lateral sclerosis (ALS) patients
    Jiang, Leanne
    Tracey, Timothy J.
    Gill, Melinder K.
    Howe, Stephanie L.
    Power, Dominique T.
    Bharti, Vanda
    McCombe, Pamela A.
    Henderson, Robert D.
    Steyn, Frederik J.
    Ngo, Shyuan T.
    STEM CELL RESEARCH, 2024, 78
  • [6] Generation of an induced pluripotent stem cell line SDPHi002-A from a patient with lung cancer
    Ai, Dan
    Yang, Xiaomeng
    Li, Xinyu
    Liu, Ning
    Xie, Xuexue
    Liu, Yi
    Song, Wei
    STEM CELL RESEARCH, 2023, 69
  • [7] Production and validation of human induced pluripotent stem cell line from sporadic amyotrophic lateral sclerosis (SALS)
    Ma, Jun
    Feng, Baofeng
    Kong, Desheng
    He, Jingjing
    Guo, Ruiyun
    Amponsah, Asiamah Ernest
    Zhang, Wei
    Zhang, Shuhan
    Lv, Fei
    Song, Yongzhou
    Liu, Aijing
    Cui, Huixian
    STEM CELL RESEARCH, 2020, 44
  • [8] 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
  • [9] Neuroinflammation in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia and the Interest of Induced Pluripotent Stem Cells to Study Immune Cells Interactions With Neurons
    Liu, Elise
    Karpf, Lea
    Bohl, Delphine
    FRONTIERS IN MOLECULAR NEUROSCIENCE, 2021, 14
  • [10] Generation of an induced pluripotent stem cell line AMUFAHi002-A from polycystic ovary syndrome patient
    Jiang, Xiaohua
    Hu, Ruomeng
    Li, Caihua
    Xu, Xuan
    Zhou, Ping
    Cao, Yunxia
    Wang, Jianye
    Wei, Zhaolian
    STEM CELL RESEARCH, 2022, 63
12345