Generation of induced pluripotent stem cell line from a patient suffering from arterial calcification due to deficiency of CD73 (ACDC)

被引:2
作者
Tripathi, Dipti [1 ,2 ]
Manhas, Amit [3 ,4 ]
Noishiki, Chikage [2 ,3 ]
Wu, David [2 ,3 ]
Adkar, Shaunak [1 ,2 ,3 ]
Sallam, Karim [3 ,4 ]
Fukaya, Eri [2 ]
Leeper, Nicholas J. [2 ,3 ,4 ]
Sayed, Nazish [1 ,2 ,3 ,5 ]
机构
[1] Stanford Univ, Baszucki Family Vasc Surg Biobank, Sch Med, Stanford, CA USA
[2] Stanford Univ, Dept Surg, Div Vasc Surg, Sch Med, Stanford, CA USA
[3] Stanford Univ, Sch Med, Stanford Cardiovasc Inst, Stanford, CA USA
[4] Stanford Univ, Sch Med, Div Cardiovasc Med, Stanford, CA USA
[5] 240 Pasteur Dr, 3551 Biomed Innovat Bldg, Stanford, CA 95304 USA
基金
美国国家卫生研究院;
关键词
Arterial calcification due to deficiency of CD73; Induced pluripotent stem cells; NT5E;
D O I
10.1016/j.scr.2023.103285
中图分类号
Q813 [细胞工程];
学科分类号
摘要
Arterial calcification due to deficiency of CD73 (ACDC) is an adult onset, rare genetic vascular disorder signified by calcium deposition in lower extremity arteries and joints of hands and feet. Mutations in NT5E gene has been shown to be responsible for the inactivation of enzyme CD73 causing calcium buildup. Here, we report a iPSC line generated from a patient showing signs of ACDC and carrying a missense mutation in NT5E (c.1126A -> G,p. T376A) gene. This iPSC line shows normal morphology, pluripotency, karyotype, and capability to differentiate into three germ layers, making it useful for disease modeling and investigating pathological mechanisms of ACDC.
引用
收藏
页数:4
相关论文
共 6 条
  • [1] Medial Arterial Calcification JACC State-of-the-Art Review
    Lanzer, Peter
    Hannan, M. Fadil
    Lanzer, D. Jan
    Janzen, Jan
    Raggi, Paolo
    Furniss, Dominic
    Schuchardt, Mirjam
    Thakker, Rajesh
    Fok, Pak-Wing
    Saez-Rodriguez, Julio
    Millan, Angel
    Sato, Yu
    Ferraresi, Roberto
    Virmani, Renu
    St. Hilaire, Cynthia
    [J]. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2021, 78 (11) : 1145 - 1165
  • [2] Generation of two iPSC lines from hypertrophic cardiomyopathy patients carrying MYBPC3 and PRKAG2 variants
    Manhas, Amit
    Jahng, James W. S.
    Vera, Carlos D.
    Shenoy, Sushma P.
    Knowles, Joshua W.
    Wu, Joseph C.
    [J]. STEM CELL RESEARCH, 2022, 61
  • [3] Clinical trial in a dish using iPSCs shows lovastatin improves endothelial dysfunction and cellular cross-talk in LMNA cardiomyopathy
    Sayed, Nazish
    Liu, Chun
    Ameen, Mohamed
    Himmati, Farhan
    Zhang, Joe Z.
    Khanamiri, Saereh
    Moonen, Jan-Renier
    Wnorowski, Alexa
    Cheng, Linling
    Rhee, June-Wha
    Gaddam, Sadhana
    Wang, Kevin C.
    Sallam, Karim
    Boyd, Jack H.
    Woo, Y. Joseph
    Rabinovitch, Marlene
    Wu, Joseph C.
    [J]. SCIENCE TRANSLATIONAL MEDICINE, 2020, 12 (554)
  • [4] Translation of Human-Induced Pluripotent Stem Cells From Clinical Trial in a Dish to Precision Medicine
    Sayed, Nazish
    Liu, Chun
    Wu, Joseph C.
    [J]. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2016, 67 (18) : 2161 - 2176
  • [5] NT5E Mutations and Arterial Calcifications
    St Hilaire, Cynthia
    Ziegler, Shira G.
    Markello, Thomas C.
    Brusco, Alfredo
    Groden, Catherine
    Gill, Fred
    Carlson-Donohoe, Hannah
    Lederman, Robert J.
    Chen, Marcus Y.
    Yang, Dan
    Siegenthaler, Michael P.
    Arduino, Carlo
    Mancini, Cecilia
    Freudenthal, Bernard
    Stanescu, Horia C.
    Zdebik, Anselm A.
    Chaganti, R. Krishna
    Nussbaum, Robert L.
    Kleta, Robert
    Gahl, William A.
    Boehm, Manfred
    [J]. NEW ENGLAND JOURNAL OF MEDICINE, 2011, 364 (05) : 432 - 442
  • [6] Tom A., 2023, N. Engl. J. Med., V388