Generation of two iPSC lines from dilated cardiomyopathy patients with pathogenic variants in the SCN5A gene

被引:0
|
作者
Dexheimer, Ryan [1 ,2 ]
Manhas, Amit [1 ,2 ]
Wu, David [1 ,3 ]
Tripathi, Dipti [1 ,3 ]
Chan, Sze Yu [1 ,2 ]
Li, Juana [1 ]
Yu, Rebecca [4 ]
Sayed, Nazish [1 ,3 ]
Wu, Joseph C. [1 ,2 ]
Sallam, Karim [1 ,2 ]
机构
[1] Stanford Univ, Sch Med, Stanford Cardiovasc Inst, Stanford, CA USA
[2] Stanford Univ, Sch Med, Div Cardiovasc Med, Stanford, CA USA
[3] Stanford Univ, Dept Surg, Div Vasc Surg, Sch Med, Stanford, CA USA
[4] Greenstone Biosci, Palo Alto, CA 94305 USA
关键词
Dilated Cardiomyopathy; Induced pluripotent stem cells; SCN5A; MUTATIONS;
D O I
10.1016/j.scr.2024.103498
中图分类号
Q813 [细胞工程];
学科分类号
摘要
Dilated cardiomyopathy (DCM) is a disorder of cardiac ventricular dilation and contractile dysfunction that often progresses to heart failure. Multiple genes have been associated with DCM, including SCN5A which has been linked to 2 % of all DCM cases. Peripheral mononuclear blood cells from DCM patients with SCN5A variants (c.2440C>T and c.665G>A) were utilized to generate two human induced pluripotent stem cell (iPSC) lines. Both lines exhibited typical iPSC morphology, expressed pluripotency markers, normal karyotypes, and trilineage differentiation capabilities. These lines offer valuable resources for investigating the mechanism of SCN5Aassociated DCM, facilitating studies of ion channel protein involvement in the disease.
引用
下载
收藏
页数:5
相关论文
共 50 条
  • [31] Distinct features of probands with early repolarization and Brugada syndromes carrying SCN5A pathogenic variants
    Estes, N. A. Mark, III
    HEART RHYTHM, 2022, 19 (01)
  • [32] Identification and characterization of a novel SCN5A mutation associated with progressive familial atrioventricular block and dilated cardiomyopathy
    Ge, JB
    Sun, AJ
    Vesa, P
    Wang, SJ
    Li, Y
    Jia, JG
    Wang, KQ
    Hu, K
    Zou, YZ
    Fan, Z
    CIRCULATION, 2005, 112 (17) : U206 - U207
  • [33] Functional evaluation of the tachycardia patient-derived iPSC cardiomyocytes carrying a novel pathogenic SCN5A variant
    Sahoglu, Sevilay Goktas
    Kazci, Yusuf Enes
    Tuncay, Erkan
    Torun, Tugce
    Akdeniz, Celal
    Tuzcu, Volkan
    Cagavi, Esra
    JOURNAL OF CELLULAR PHYSIOLOGY, 2022, 237 (10) : 3900 - 3911
  • [34] Results of studying frequencies of genotypes and alleles of polymorphism A/G gene SCN5A (rs1805124) among men with a dilated cardiomyopathy
    Chernova, A. Anna
    Nikulina, S.
    Kuznecova, O.
    EUROPEAN JOURNAL OF HEART FAILURE, 2021, 23 : 257 - 257
  • [35] ANALYSIS OF SCN5A MUTATION IN PATIENTS WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY/DYSPLASIA
    Hu JinZhu
    Yu Jianhua
    Dai Xiyan
    Zhou Hui
    Li Juxiang
    Cheng Xiaoshu
    Hong Kui
    HEART, 2013, 99 : E47 - E47
  • [36] Generation of two iPSC lines from long QT syndrome patients carrying SNTA1 variants
    Jimenez-Tellez, Nerea
    Vera, Carlos D.
    Yildirim, Zehra
    Guevara, Julio Vicente
    Zhang, Tina
    Wu, Joseph C.
    STEM CELL RESEARCH, 2023, 66
  • [37] Analysis of SCN5A Mutation in Patients with Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia
    Hu Jinzhu
    Hong Kui
    JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2014, 64 (16) : C22 - C22
  • [38] Analysis of SCN5A mutation in patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia
    Hu, Jinzhu
    Yu, Jianhua
    Dai, Xiyan
    Zhou, Hui
    Li, Juxiang
    Cheng, Xiaoshu
    Hong, Kui
    CARDIOLOGY, 2013, 126 : 33 - 33
  • [39] Novel SCN5A variants identified in a group of Iranian Brugada syndrome patients
    Ghaffari, Taraneh
    Motlagh, Naser Mirhosseini
    Daraei, Abdolreza
    Tafrihi, Majid
    Saravi, Mehrdad
    Sabour, Davood
    FUNCTIONAL & INTEGRATIVE GENOMICS, 2021, 21 (3-4) : 331 - 340
  • [40] Novel SCN5A variants identified in a group of Iranian Brugada syndrome patients
    Taraneh Ghaffari
    Naser Mirhosseini Motlagh
    Abdolreza Daraei
    Majid Tafrihi
    Mehrdad Saravi
    Davood Sabour
    Functional & Integrative Genomics, 2021, 21 : 331 - 340