Establishment of an induced pluripotent stem cell line from a patient with CHARGE syndrome carrying a CHD7 (p.L1151Gfs*17) mutation

被引：1
|
作者：
He, Shouhuan [1 ]
Hu, Jintao [2 ,3 ]
Zheng, Zhong [4 ,5 ]
Wang, Jingjing [4 ,5 ]
Chen, Jianling [6 ]
Zhang, Cui [6 ]
Li, Liang [6 ]
Wang, Jiping [4 ,5 ]
Chen, Zhengnong [4 ,5 ]
Shi, Haibo [4 ,5 ,7 ]
Wang, Jinfu [6 ]
机构：
[1] Fudan Univ, Zhongshan Hosp, Qingpu Branch, Dept Otolaryngol, Shanghai 201700, Peoples R China
[2] Zhejiang Chinese Med Univ, Clin Med Coll 3, Hangzhou 310053, Peoples R China
[3] Hangzhou Xiaoshan Dist Chinese Med Hosp, Dept Orthoped, Hangzhou 311200, Peoples R China
[4] Shanghai Jiao Tong Univ, Dept Otolaryngol Head & Neck Surg, Affiliated Peoples Hosp 6, Shanghai 200233, Peoples R China
[5] Shanghai Jiao Tong Univ, Otolaryngol Inst, Shanghai 200233, Peoples R China
[6] Zhejiang Univ, Coll Life Sci, Inst Cell Biol, Lab Stem Cells, Hangzhou 310058, Zhejiang, Peoples R China
[7] Shanghai Key Lab Sleep Disordered Breathing, Shanghai 200233, Peoples R China
来源：
STEM CELL RESEARCH | 2020年 / 45卷
基金：
中国国家自然科学基金;
关键词：
D O I：
10.1016/j.scr.2020.101774
中图分类号：
Q813 [细胞工程];
学科分类号：
摘要：
CHARGE syndrome is a rare disease caused by a genetic disorder. The clinical features of this syndrome include coloboma of the eye, heart anomaly, choanal atresia, retardation of mental and somatic development, microphallus, ear abnormalities and/or deafness. CHD7 is the main causative gene for CHARGE syndrome. In this study, we generated an induced pluripotent stem cell (iPSC) line from the dermal fibroblasts of a 1.5 -year -old girl, carrying a de novo mutation ( CHD7 ;NM_017780;c.3449_3450delTC;p.L1151Gfs*17). This iPSC line will be a useful tool for investigating the pathogenesis and for developing treatment for this complicated syndrome.
引用
收藏
页数：5
相关论文
共 50 条
  • [21] Generation of a human induced pluripotent stem cell line from a female patient carrying LZTR1 gene mutation
    Ruan, Jinghua
    Wu, Mengqing
    Xiang, Jiakai
    Hui, Xianrui
    Yang, Lijun
    Lin, Ru
    Xu, Weize
    Shu, Qiang
    STEM CELL RESEARCH, 2024, 81
  • [22] Generation of a human induced pluripotent stem cell line derived from a patient with dilated cardiomyopathy carrying LMNA nonsense mutation
    Shimoda, Yuzuno
    Murakoshi, Nobuyuki
    Mori, Haruka
    Xu, DongZhu
    Tajiri, Kazuko
    Hemmi, Yasuko
    Sato, Iori
    Noguchi, Michiya
    Nakamura, Yukio
    Hayashi, Yohei
    Ieda, Masaki
    STEM CELL RESEARCH, 2022, 62
  • [23] Establishment of a human induced pluripotent stem cell line (NIHTVBi031-A) derived from a COPA syndrome patient with a heterozygous p.Ala239Pro mutation
    Joseph, Benjamin
    Varea, Isabella
    Emmerich, Kevin
    Manohar-Sindhu, Sahana
    Zou, Jizhong
    Friend, Kip
    Sipwoli, Caleb
    Tang, Xuming
    Yang, Dan
    Rasheed, Adriana A. de Jesus
    Goldbach-Mansky, Raphaela
    Boehm, Manfred
    STEM CELL RESEARCH, 2024, 80
  • [24] Establishment of an induced pluripotent stem cell line from a retinitis pigmentosa patient with compound heterozygous CRB1 mutation
    Zhang, Xiao
    Zhang, Dan
    Chen, Shang-Chih
    Lamey, Tina
    Thompson, Jennifer A.
    McLaren, Terri
    De Roach, John N.
    Chen, Fred K.
    McLenachan, Samuel
    STEM CELL RESEARCH, 2018, 31 : 147 - 151
  • [25] Establishment of an induced pluripotent stem cell line (JTUi003-A) from a patient with otosclerosis
    Xiong, Yuanping
    Wang, Ying
    Xu, Maoxiang
    Liu, Yaoqian
    Jiang, Hongqun
    Jiang, Zhuang
    Wang, Jiping
    STEM CELL RESEARCH, 2022, 60
  • [26] Generation of an induced pluripotent stem cell line from a Brugada syndrome patient carrying SCN5A/c.3118G>C mutation
    Fan, Hangping
    Su, Jun
    Wang, Xiaochen
    Wang, Hao
    Chen, Xianzhen
    Sun, Yaxun
    Jiang, Chenyang
    Liang, Ping
    STEM CELL RESEARCH, 2024, 80
  • [27] 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
  • [28] 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
  • [29] Generation of an induced pluripotent stem cell line from a patient carrying FBN1/c.6734 G > A mutation
    Pan, Ziwei
    Wang, Hongkun
    Wang, Hao
    Liu, Yong
    Liang, Ping
    STEM CELL RESEARCH, 2021, 55
  • [30] Establishment of human induced pluripotent stem cell line from a patient with Angelman syndrome carrying the deletion of maternal chromosome 15q11.2-q13
    Niki, Takeshi
    Imamura, Keiko
    Enami, Takako
    Kinoshita, Masako
    Inoue, Haruhisa
    STEM CELL RESEARCH, 2019, 34
12345