Generation of a new human induced pluripotent stem cell (hiPSC) line from a South Asian Indian with a MYBPC3Δ25bp variant

被引：0
|
作者：
Chimata, Prasanth [1 ,2 ]
Kashyap, Deepak K. [1 ,3 ]
Sairam, Thiagarajan [1 ]
Ganesh, Akshayaa [4 ]
Thangaraj, Kumarasamy [3 ,5 ]
Purushottam, Meera [4 ]
Viswanath, Biju [4 ]
Jain, Sanjeev [4 ]
Dhandapany, Perundurai S. [1 ]
机构：
[1] Inst Stem Cell Sci & Regenerat Med, Bangalore InStem, Cardiovasc Biol & Dis Theme, Bangalore, Karnataka, India
[2] Manipal Acad Higher Educ, Manipal, India
[3] CSIR Ctr Cellular & Mol Biol CCMB, Hyderabad, India
[4] Natl Inst Mental Hlth & Neurosci, Dept Psychiat, Mol Genet Lab, Bengaluru, India
[5] Ctr DNA Fingerprinting & Diagnost CDFD, Hyderabad, India
来源：
STEM CELL RESEARCH | 2022年 / 65卷
基金：
英国惠康基金;
关键词：
D O I：
10.1016/j.scr.2022.102978
中图分类号：
Q813 [细胞工程];
学科分类号：
摘要：
Myosin binding protein C3 (MYBPC3) is a thick filament contractile protein that interacts with myosin, titin and actin and regulates cardiac muscle contraction. Genetic variations in the MYBPC3 gene are known causal factors for cardiomyopathy and heart failure. Previously, we identified a recurrent MYBPC3 deletion (25 base pairs) among South Asians associated with cardiomyopathy and heart failure. Here, we generated an induced pluripotent stem cell (iPSC) line using peripheral blood mononuclear cells (PBMC) from an Indian harboring MYBPC3 deletion. This iPSC line displayed embryonic stem cell morphology, expressed pluripotency markers, differentiated into three germ layers and exhibited normal karyotype.
引用
收藏
页数：5
相关论文
共 50 条
  • [1] Genetic, clinical, molecular, and pathogenic aspects of the South Asian–specific polymorphic MYBPC3 Δ25bp variant
    Arif M.
    Nabavizadeh P.
    Song T.
    Desai D.
    Singh R.
    Bazrafshan S.
    Kumar M.
    Wang Y.
    Gilbert R.J.
    Dhandapany P.S.
    Becker R.C.
    Kranias E.G.
    Sadayappan S.
    [J]. Biophysical Reviews, 2020, 12 (4) : 1065 - 1084
  • [2] Association of Cardiomyopathy With MYBPC3 D389V and MYBPC3Δ25bP Intronic Deletion in South Asian Descendants
    Viswanathan, Shiv Kumar
    Puckelwartz, Megan J.
    Mehta, Ashish
    Ramachandra, Chrishan J. A.
    Jagadeesan, Aravindakshan
    Fritsche-Danielson, Regina
    Bhat, Ratan, V
    Wong, Philip
    Kandoi, Sangeetha
    Schwanekamp, Jennifer A.
    Kuffel, Gina
    Pesce, Lorenzo L.
    Zilliox, Michael J.
    Durai, U. Nalla B.
    Verma, Rama Shanker
    Molokie, Robert E.
    Suresh, Domodhar P.
    Khoury, Philip R.
    Thomas, Annie
    Sanagala, Thriven
    Tang, Hak Chiaw
    Becker, Richard C.
    Knoll, Ralph
    Shim, Winston
    McNally, Elizabeth M.
    Sadayappan, Sakthivel
    [J]. JAMA CARDIOLOGY, 2018, 3 (06) : 481 - 488
  • [3] Genetic Causes of Incomplete Penetrance of MYBPC3[DELTA]25bp in US-South Asian Descendants
    Viswanathan, Shiv K.
    Puckelwartz, Megan J.
    Harris, David A.
    Arif, Mohammed
    Rubinstein, Jack
    McNally, Elizabeth M.
    Sadayappan, Sakthivel
    [J]. CIRCULATION, 2018, 138
  • [4] Association of South Asian-specific MYBPC3Δ25bp deletion polymorphism and cardiomyopathy: A systematic review and meta-analysis
    Koshy, Linda
    Jeemon, Panniyammakal
    Ganapathi, Sanjay
    Madhavan, Madhuma
    Urulangodi, Madhusoodanan
    Sharma, Meenakshi
    Harikrishnan, Sivadasanpillai
    [J]. META GENE, 2021, 28
  • [5] South Asian-Specific MYBPC3Δ25bp Deletion Carriers Display Hypercontraction and Impaired Diastolic Function Under Exercise Stress
    Bazrafshan, Sholeh
    Sibilia, Robert
    Girgla, Saavia
    Viswanathan, Shiv Kumar
    Puckelwartz, Megan J.
    Sangha, Kiranpal S.
    Singh, Rohit R.
    Kakroo, Mashhood
    Jandarov, Roman
    Harris, David M.
    Rubinstein, Jack
    Becker, Richard C.
    McNally, Elizabeth M.
    Sadayappan, Sakthivel
    [J]. FRONTIERS IN CARDIOVASCULAR MEDICINE, 2021, 8
  • [6] South Asian-specific MYBPC3 25bp Intronic Deletion Carriers Demonstrate Hypercontractility and Impaired Diastolic Function Under Exercise Stress
    Kondori, Sholeh Bazrafshan
    Sibilia, Robert
    Girgla, Saavia
    Viswanathan, Shiv K.
    Puckelwartz, Megan
    McNally, Elizabeth M.
    Sangha, Kiranpal S.
    Singh, Rohit
    Kakroo, Mashhood
    Jandarov, Roman
    Harris, David
    Rubinstein, Jack
    Becker, Richard C.
    Sadayappan, Sakthivel
    [J]. CIRCULATION, 2020, 142
  • [7] Generation of induced pluripotent stem cell lines from South Asian ethnicity
    Khokhar, Yaser
    Bhowmik, Ava
    Zhao, Shane Rui
    Cook, Zachary
    Nallamshetty, Shriram
    Wu, Joseph C.
    [J]. STEM CELL RESEARCH, 2024, 74
  • [8] Generation of induced pluripotent stem cell lines from two unrelated individuals with familial hypertrophic cardiomyopathy carrying MYBPC3 nonsense mutations
    Ribeiro, Marta
    Jager, Joanna
    Furtado, Marta
    Carvalho, Teresa
    Cabral, Joaquim M. S.
    Brito, Dulce
    Carmo-Fonseca, Maria
    Martins, Sandra
    da Rocha, Simao Teixeira
    [J]. STEM CELL RESEARCH, 2024, 76
  • [9] Generation of an induced pluripotent stem cell line from a hypertrophic cardiomyopathy patient with a pathogenic myosin binding protein C (MYBPC3) p.Arg502Trp mutation
    Holliday, Mira
    Ross, Samantha Barratt
    Lim, Seakcheng
    Semsarian, Christopher
    [J]. STEM CELL RESEARCH, 2018, 33 : 56 - 59
  • [10] Generation of two human induced pluripotent stem cell (hiPSC) lines from a long QT syndrome South African founder population
    Mura, Manuela
    Pisano, Federica
    Stefanello, Manuela
    Ginevrino, Monia
    Boni, Marina
    Calabro, Federica
    Crotti, Lia
    Valente, Enza Maria
    Schwartz, Peter J.
    Brink, Paul A.
    Gnecchi, Massimiliano
    [J]. STEM CELL RESEARCH, 2019, 39
12345