Generating a human induced pluripotent stem cell line (XACHi018-A) from a Timothy syndrome infant carrying heterozygous CACNA1C c.1216G>A > A (p.G406R) mutation

被引：0
|
作者：
Jiang, Congshan [1 ]
Huang, Wenjun [1 ]
Zhou, Yafei [1 ]
Wang, Jie [1 ]
Lei, Hong [1 ]
Niu, Youguo [3 ]
Zhou, Rui [1 ]
Zhang, Yanmin [1 ,2 ]
机构：
[1] Xian Jiaotong Univ Xian, Xian Childrens Hosp,Xian Key Lab Childrens Hlth &, Shaanxi Inst Pediat Dis,Key Lab Precis Med Pediat, Natl Reg Childrens Med Ctr Northwest,Affiliated Ch, 69 Xijuyuan Lane, Xian 710003, Peoples R China
[2] Xi An Jiao Tong Univ, Xian Childrens Hosp, Dept Cardiol, Affiliated Childrens Hosp, Xian, Peoples R China
[3] Univ Cambridge, Dept Physiol Dev & Neurosci, Cambridge, England
来源：
STEM CELL RESEARCH | 2024年 / 80卷
基金：
中国国家自然科学基金;
关键词：
D O I：
10.1016/j.scr.2024.103513
中图分类号：
Q813 [细胞工程];
学科分类号：
摘要：
Timothy syndrome, an extremely rare disease, is closely associated with a mutation in CACNA1C gene, which encodes the cardiac L-type voltage-gated calcium channel (Cav1.2). In this study, we generated a human induced pluripotent stem cell (iPSC) line from a Timothy syndrome infant carrying heterozygous CACNA1C mutation (transcript variant NM_000719.7c.1216G>A: p.G406R). The generated iPSC line showed typical stem cell morphology, positively expressed pluripotency and proliferation markers, normal karyotype, and trilineage differentiation potential. Therefore, this patient-specific iPSC can be of great significance in investigating the mechanisms underlying Timothy syndrome, and hence establishing effective intervention strategies.
引用
收藏
页数：5
相关论文
共 50 条
  • [31] Generation of a human induced pluripotent stem cell line (FDCHi010-A) from a patient with Xia-Gibbs syndrome carrying AHDC1 mutation (c.2062C > T)
    Yin, Tingting
    Wu, Bingbing
    Peng, Ting
    Liao, Yunfei
    Jiao, Shuangyun
    Wang, Huijun
    STEM CELL RESEARCH, 2023, 69
  • [32] Derivation of two human induced pluripotent stem cell lines carrying a missense mutation in FHL1 (c.377G > A, p.C126Y) linked to familial muscular dystrophy
    Zabalegui, Federico
    Castaneda, Sheila Lucia
    Amin, Guadalupe
    Belli, Carolina
    Miriuka, Santiago Gabriel
    Moro, Lucia Natalia
    STEM CELL RESEARCH, 2024, 75
  • [33] Generation of a human induced pluripotent stem cell line (FDIBSi001-A) from a patient with ADNP syndrome carrying ADNP mutation (c. 2059 T>C)
    Wu, Mengnan
    Cheng, Yan
    Xu, Qiong
    Xiong, Man
    STEM CELL RESEARCH, 2024, 81
  • [34] Generation of an induced pluripotent stem cell line (CSBZZUi001-A) from a female Alzheimer's patient carrying the PSEN1 709 T > C heterozygous mutation
    Meng, Xiao-Yan
    Sun, Hui-Fang
    Zhang, Ying-Jie
    Li, Wen-Xiu
    Wang, Dian -Dian
    Liu, Dan-Hua
    Li, Sen-Miao
    Wu, Yue
    Li, Jia-Kang
    Liu, Xiao-Hui
    Liu, Pei -Pei
    Yang, Run-Zhou
    Li, Shu-Ang
    Kang, Jian-Sheng
    STEM CELL RESEARCH, 2024, 79
  • [35] Generation of an induced pluripotent stem cell line (TRNDi031-A) from a patient with Alagille syndrome type 1 carrying a heterozygous p. C312X (c. 936 T>A) mutation in JAGGED-1
    Brooks, Brianna M.
    Pradhan, Manisha
    Cheng, Yu-Shan
    Gorshkov, Kirill
    Farkhondeh, Atena
    Chen, Catherine Z.
    Beers, Jeanette
    Liu, Chengyu
    Baumgaertel, Karsten
    Rodems, Steven
    Zheng, Wei
    STEM CELL RESEARCH, 2021, 54
  • [36] An induced pluripotent stem cell line (TRNDi009-C) from a Niemann-Pick disease type A patient carrying a heterozygous p.L302P (c.905 T > C) mutation in the SMPD1 gene
    Baskfield, Amanda
    Li, Rong
    Beers, Jeanette
    Zou, Jizhong
    Liu, Chengyu
    Zheng, Wei
    STEM CELL RESEARCH, 2019, 38
  • [37] 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
  • [38] Establishment of an induced pluripotent stem cell line from a Antley-Bixler Syndrome (ABS) patient with the homozygote mutation p.R457H (c.1370G>A) in POR gene
    Guo, Xiaoling
    Wang, Dexuan
    Shan, Xiaoou
    Yang, Liang
    Ding, Yinjuan
    Chen, Huihui
    Rong, Xing
    Chu, Maoping
    Lin, Jian
    Chen, Congde
    STEM CELL RESEARCH, 2021, 52
  • [39] Human induced pluripotent stem cell line ZZUNEUi027-A generated from a long QT syndrome patient with a heterozygous KCNH2 (c. 128 A > G) mutant
    Zhao, Jiangtao
    Wang, Lu
    Zhu, Kui
    Chen, Xiaowei
    Qin, Fen
    Li, Xiaowei
    Dong, Jianzeng
    Tao, Hailong
    STEM CELL RESEARCH, 2022, 63
  • [40] Establishment of a human induced pluripotent stem cell line (WMUi031-A) from a Lowe syndrome patient carrying a OCRL gene mutation (c.2626dupA)
    Qian, Rengchen
    Wang, Long
    Chen, Huihui
    Ding, Yinjuan
    Wang, Dexuan
    Chen, Congde
    Chu, Maoping
    Shan, Xiaoou
    Guo, Xiaoling
    STEM CELL RESEARCH, 2021, 53
12345