Generation of induced pluripotent stem cell line, ZJUCHi002-A, from Charcot-Marie-Tooth disease type 2A (CMT2A) patient with a mutation of c.752C > T in MFN2

被引:2
|
作者
Xu, Jiake [1 ,2 ,3 ]
Fu, Yong [5 ]
Xia, Weichun [1 ,2 ,3 ]
He, Jing [1 ,2 ,3 ]
Zou, Yan [6 ]
Ruan, Wencong [7 ]
Lou, Qi [8 ]
Li, Ying [1 ,2 ,3 ]
Pan, Jianwei [9 ]
Li, Haifeng [7 ]
Chen, Wei [1 ,2 ,3 ,4 ]
机构
[1] Zhejiang Univ, Sch Med, Childrens Hosp, Hangzhou 310052, Zhejiang, Peoples R China
[2] Zhejiang Univ, Sch Med, Key Lab Diag & Treatment Neonatal Dis Zhejiang Pr, Hangzhou 310052, Zhejiang, Peoples R China
[3] Zhejiang Univ, Inst Translat Med, Sch Med, Hangzhou 310020, Zhejiang, Peoples R China
[4] Zhejiang Univ, Sch Med, Minist Hlth China, Dept Neurobiol,Key Lab Med Neurobiol, Hangzhou 310058, Zhejiang, Peoples R China
[5] Zhejiang Univ, Sch Med, Childrens Hosp, Otolaryngol Dept, Hangzhou, Zhejiang, Peoples R China
[6] Zhejiang Ctr Dis Control & Prevent, Hangzhou, Zhejiang, Peoples R China
[7] Zhejiang Univ, Sch Med, Childrens Hosp, Pediat Rehabil Dept, Hangzhou 310052, Zhejiang, Peoples R China
[8] Zhejiang Acad Med Sci, Expt Anim Ctr, Hangzhou 310013, Zhejiang, Peoples R China
[9] Zhejiang Univ, Sch Med, Affiliated Hosp 1, Dept Neurosurg, Hangzhou 310009, Zhejiang, Peoples R China
基金
中国国家自然科学基金;
关键词
D O I
10.1016/j.scr.2019.101411
中图分类号
Q813 [细胞工程];
学科分类号
摘要
The human induced pluripotent stem cell (iPSC) line ZJUCHi002-A was established from renal epithelial cells present in urine (urinary cells) collected from an 8-year-old Charcot-Marie-Tooth disease type 2A (CMT2A) patient carrying point mutation in MFN2 (c.752C> T). Urinary cells were reprogrammed by retrovirus vectors containing reprogramming factors: OCT4, SOX2, KLF4 and c-MYC. The pluripotency, capacity of differentiation into 3 germ layers, silence of reprogramming factors and normal karyotype were all confirmed in this study.
引用
收藏
页数:5
相关论文
共 50 条
  • [31] A homozygous SH3TC2 mutation in a Korean patient with Charcot-Marie-Tooth disease type 4C
    Shin, Je-Young
    Lee, Jong-Mok
    NEUROLOGY ASIA, 2021, 26 (04) : 835 - 837
  • [32] Generation of an induced pluripotent stem cell line from an aortic dissection patient carrying MCTP2/c.2635T > G mutation
    Feng, Weiqi
    Li, Chenxi
    Li, Ying
    Yang, Jue
    Fan, Ruixin
    STEM CELL RESEARCH, 2023, 68
  • [33] Co-occurrence of amyotrophic lateral sclerosis and Charcot-Marie-Tooth disease type 2A in a patient with a novel mutation in the mitofusin-2 gene
    Marchesi, Chiara
    Ciano, Claudia
    Salsano, Ettore
    Nanetti, Lorenzo
    Milani, Micaela
    Gellera, Cinzia
    Taroni, Franco
    Fabrizi, Gian Maria
    Uncini, Antonino
    Pareyson, Davide
    NEUROMUSCULAR DISORDERS, 2011, 21 (02) : 129 - 131
  • [34] Mfn2R364W, Mfn2G176S, and Mfn2 H165R mutations drive Charcot-Marie-Tooth type 2A disease by inducing apoptosis and mitochondrial oxidative phosphorylation damage
    Zhang, Yuanzhu
    Ma, Lerong
    Wang, Ziru
    Gao, Chuang
    Yang, Lin
    Li, Mengjing
    Tang, Xiaochun
    Yuan, Hongming
    Pang, Daxin
    Ouyang, Hongsheng
    INTERNATIONAL JOURNAL OF BIOLOGICAL MACROMOLECULES, 2024, 278
  • [35] Establishment of a human induced pluripotent stem cell (iPSC) line (JUCTCi018-A) from a patient with Charcot-Marie-Tooth disease type 2EE (CMT2EE) due to a homozygous c.122G > A p.(Arg41Gln) mutation in the MPV17 gene
    Ababneh, Nidaa A.
    Barham, Raghda
    Al-Kurdi, Ban
    Al Hadidi, Sabal
    Ali, Dema
    Abdulelah, Ahmed A.
    Madadha, Adan
    Masri, Amira
    Awidi, Abdalla
    STEM CELL RESEARCH, 2024, 81
  • [36] Establishment of a human induced pluripotent stem cell line, JUCTCi012-A, from multiple symmetric lipomatosis (MSL) patient carrying a homozygous Arg707Trp (c.2119C > T) mutation in the MFN2 gene
    Ababneh, Nidaa A.
    Ali, Dema
    Barham, Raghda
    Al-Kurdi, Ban
    Sharar, Nour
    Al Hadidi, Sabal
    Qanno', Omar
    Ryalat, Abdee T.
    Salah, Bareqa
    Awidi, Abdalla
    STEM CELL RESEARCH, 2020, 48
  • [37] Generation of an induced pluripotent stem cell line from a long QT syndrome patient carrying KCNH2/1956C > A mutation
    Guo, Fengfeng
    Sun, Yaxun
    Wang, Hongkun
    Wang, Hao
    Zhou, Jingjun
    Fan, Hangping
    Su, Jun
    Gong, Tingyu
    Jiang, Chenyang
    Liang, Ping
    STEM CELL RESEARCH, 2022, 62
  • [38] Establishing a human-induced pluripotent stem cell line (SMUSHi003-A) from a patient with Charcot-Marie-Tooth disease and focal segmental glomerulosclerosis
    Lei, Qunjuan
    Zhou, Wenyan
    Huang, Ling
    Zhang, Yu
    Xu, Xueqing
    Guo, Xiaohua
    STEM CELL RESEARCH, 2024, 76
  • [39] Abnormal Mitochondrial Trafficking and Cytoskeletal Organization in a Human Induced Pluripotent Stem Cell and a Mouse Model of Charcot-Marie-Tooth Disease Type 2E
    Saporta, Mario
    Volfson, Dmitri
    Adebola, Adijat
    Shy, Michael
    Liem, Ronald
    Dimos, John
    NEUROLOGY, 2012, 78
  • [40] Abnormal Mitochondrial Trafficking and Cytoskeletal Organization in a Human Induced Pluripotent Stem Cell and a Mouse Model of Charcot-Marie-Tooth Disease Type 2E
    Saporta, Mario
    Volfson, Dmitri
    Adebola, Adijat
    Shy, Michael
    Liem, Ronald
    Dimos, John
    NEUROLOGY, 2012, 78