Generation of an induced pluripotent stem cell line (SJTUGHi001-A) from a patient with Retinitis Pigmentosa carrying c.77C > T mutation in RAX2 gene

被引：0
|
作者：
Bai, Xinyue [1 ,2 ,3 ,4 ,5 ,6 ,7 ]
Chen, Jieqiong [1 ,2 ,3 ,4 ,5 ,6 ,7 ]
Zhao, Xiaohuan [1 ,2 ,3 ,4 ,5 ,6 ,7 ]
Zhu, Xinyue [1 ,2 ,3 ,4 ,5 ,6 ,7 ]
Ding, Xiaoyan [8 ]
Zhang, Ting [1 ,2 ,3 ,4 ,5 ,6 ,7 ]
Jiang, Mei [1 ,2 ,3 ,4 ,5 ,6 ,7 ]
Sun, Xiaodong [1 ,2 ,3 ,4 ,5 ,6 ,7 ]
机构：
[1] Shanghai Jiao Tong Univ, Shanghai Gen Hosp, Sch Med, Dept Ophthalmol, Shanghai, Peoples R China
[2] Natl Clin Res Ctr Eye Dis, Shanghai, Peoples R China
[3] Shanghai Clin Res Ctr Eye Dis, Shanghai, Peoples R China
[4] Shanghai Key Clin Specialty, Shanghai, Peoples R China
[5] Shanghai Key Lab Ocular Fundus Dis, Shanghai, Peoples R China
[6] Shanghai Engn Ctr Visual Sci & Photomed, Shanghai, Peoples R China
[7] Shanghai Engn Ctr Precise Diag & Treatment Eye Dis, Shanghai, Peoples R China
[8] Chinese Acad Sci, CAS Ctr Excellence Mol Cell Sci, Stem Cell Core Facil, Shanghai, Peoples R China
来源：
STEM CELL RESEARCH | 2024年 / 77卷
基金：
中国国家自然科学基金;
关键词：
D O I：
10.1016/j.scr.2024.103390
中图分类号：
Q813 [细胞工程];
学科分类号：
摘要：
Retinitis pigmentosa (RP) is a group of genetically heterogeneous retinopathy resulting in irreversible loss of vision. Mutations in RAX2 gene has been related to RP with mechanisms unclear. Here, we generated a human induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells of a RP patient carrying c.77C > T mutation in RAX2 gene. This cell line was induced by integration-free episomal vectors and validated for pluripotency and differentiation capacity, which may serve as a model to study the role of RAX2 in RP pathogenesis.
引用
收藏
页数：4
相关论文
共 50 条
  • [41] An induced pluripotent stem cell line (SDQLCHi062-A) from a patient carrying a mutation in the PAX2 gene
    Yang, Xiaomeng
    Zhang, Hongxia
    Gao, Min
    Lv, Yuqiang
    Song, Wei
    Duan, Chunhong
    Liu, Yi
    STEM CELL RESEARCH, 2023, 73
  • [42] Generation of a human induced pluripotent stem cell line (SMUSHi002-A) from an ALS patient carrying a heterozygous mutation c.1562G > A in the FUS gene
    Tang, Mei
    Xiong, Min
    Zhou, Wenyan
    Lei, Jiafan
    Huang, Min
    Huang, Chunyan
    Wang, Fei
    Liu, Jun
    Li, Jun
    Xu, Xueqing
    STEM CELL RESEARCH, 2024, 74
  • [43] Generation of a human induced pluripotent stem cell (iPSC) line from a patient carrying a P33T mutation in the PDX1 gene
    Wang, Xianming
    Chen, Shen
    Burtscher, Ingo
    Sterr, Michael
    Hieronimus, Anja
    Machicao, Fausto
    Staiger, Harald
    Haering, Hans-Ulrich
    Lederer, Gabriele
    Meitinger, Thomas
    Lickert, Heiko
    STEM CELL RESEARCH, 2016, 17 (02) : 273 - 276
  • [44] Generation of an induced pluripotent stem cell line from a patient with Angelman syndrome carrying UBE3A mutation
    Li, Shasha
    Zhu, Qunyan
    Cai, Yaoyao
    Yang, Qian
    STEM CELL RESEARCH, 2022, 62
  • [45] Generation of induced pluripotent stem cells (NJDTHi001-A) from a Danon disease child with mutation of c.467 T > G in LAMP2 gene
    Zhu, Xiyu
    Wang, Junxia
    Chong, Hoshun
    Wang, Jiaxian
    Wang, Dongjin
    STEM CELL RESEARCH, 2020, 49
  • [46] Human induced pluripotent stem cell line XXMUFAi001-A generated from a patient harboring KCNH2 mutation (c. 2690 A>C)
    Li, Xiaolei
    Zhang, Junbiao
    Wang, Xiaofeng
    Pu, Dawei
    Zhang, Zhenling
    Niu, Yifang
    Zhang, Shuai
    Fan, Zhenping
    Li, Yuxuan
    Li, Peicheng
    Liu, Hui
    Lv, Fenghua
    Zhang, Yongchun
    Li, Ya'nan
    STEM CELL RESEARCH, 2025, 82
  • [47] Generation of a human induced pluripotent stem cell line from a hypertrophic cardiomyopathy patient carrying MYH6 /c.611G > A mutation
    Yang, Zongkuai
    Zhou, Jingjun
    Wang, Hao
    Chen, Xianzhen
    Sun, Yaxun
    Jiang, Chenyang
    Liang, Ping
    STEM CELL RESEARCH, 2024, 81
  • [48] Reprogramming of a human induced pluripotent stem cell line from a long QT syndrome patient harboring a heterozygous mutation of c.1537C > T in SCN5A gene
    Chen, Jianan
    Song, Yesang
    Gu, Junqing
    Chen, Lian
    STEM CELL RESEARCH, 2021, 57
  • [49] Generation of an induced pluripotent stem cell line from a patient with Stargardt disease caused by biallelic c.[5461-10T>C;5603A>T]; [6077T>C] mutations in the ABCA4 gene
    Huang, Di
    Zhang, Dan
    Chen, Shang-Chih
    Aung-Htut, May Thandar
    Lamey, Tina M.
    Thompson, Jennifer A.
    McLaren, Terri L.
    De Roach, John N.
    Fletcher, Sue
    Wilton, Steve D.
    McLenachan, Samuel
    Chen, Fred K.
    STEM CELL RESEARCH, 2021, 54
  • [50] Generation of an induced pluripotent stem cell line HUSTTJi001-A from a Moyamoya disease patient with RNF213 gene mutation
    Mao, Zhijuan
    Li, Yunjie
    Huang, Liangjiang
    Chen, Yunqiang
    Luo, Hongmei
    Zhang, Suming
    Chen, Hong
    STEM CELL RESEARCH, 2021, 57
12345