Genomic correction of familial cardiomyopathy in human engineered cardiac tissues

European Heart Journal

Volumn 37, Issue 43, 2016, Pages 3282-3284

  Stillitano, Francesca ^a   Turnbull, Irene C ^a   Karakikes, Ioannis ^a,b   Nonnenmacher, Mathieu ^a   Backeris, Peter ^a   Hulot, Jean Sébastien ^a,c   Kranias, Evangelia G ^d   Hajjar, Roger J ^a   Costa, Kevin D ^a  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^b STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c SORBONNE UNIVERSITÉ   (France)

^d UNIVERSITY OF CINCINNATI   (United States)

Author keywords

Dilated cardiomyopathy; Engineered heart tissue; Gene editing; Induced pluripotent stem cells; Phospholamban

Indexed keywords

PHOSPHOLAMBAN; CALCIUM BINDING PROTEIN;

ARRHYTHMOGENESIS; ARTICLE; CARDIAC MUSCLE CELL; CONGESTIVE CARDIOMYOPATHY; CONTROLLED STUDY; ENGINEERED HEART TISSUE; FAMILIAL DISEASE; GENE DELETION; GENE EDITING; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; GENETIC VARIABILITY; GENOMICS; HEART MUSCLE CONTRACTILITY; HUMAN; HUMAN CELL; HUMAN TISSUE; INDUCED PLURIPOTENT STEM CELL; INHERITANCE; PRIORITY JOURNAL; CARDIOMYOPATHY; MUTATION;

CALCIUM-BINDING PROTEINS; CARDIOMYOPATHIES; GENOMICS; HUMANS; MUTATION;

EID: 85013641801     PISSN: 0195668X     EISSN: 15229645     Source Type: Journal    
DOI: 10.1093/eurheartj/ehw307     Document Type: Article

References (6)

1. Haghighi K, Kolokathis F, Gramolini AO, Waggoner JR, Pater L, Lynch RA, Fan GC, Tsiapras D, Parekh RR, DornGWII, MacLennan DH, Kremastinos DT, Kranias EG. A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy. Proc Natl Acad Sci USA 2006;103:1388-1393.
2. van Spaendonck-Zwarts KY, van Rijsingen IA, van den Berg MP, Lekanne Deprez RH, Post JG, van Mil AM, Asselbergs FW, Christiaans I, van Langen IM, Wilde AA, de Boer RA, Jongbloed JD, Pinto YM, van Tintelen JP. Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience. Eur J Heart Fail 2013;15:628-636.
3. MacLennan DH, Asahi M, Tupling AR. The regulation of SERCA-type pumps by phospholamban and sarcolipin. Ann N Y Acad Sci 2003;986:472-480.
4. Karakikes I, Stillitano F, Nonnenmacher M, Tzimas C, Sanoudou D, Termglinchan V, KongCW, Rushing S, Hansen J, Ceholski D, Kolokathis F, Kremastinos D, Katoulis A, Ren L, Cohen N, Gho JM, Tsiapras D, Vink A,WuJC, Asselbergs FW, Li RA, Hulot JS, Kranias EG, Hajjar RJ. Correction of human phospholamban R14del mutation associated with cardiomyopathy using targeted nucleases and combination therapy. Nat Commun 2015;6:6955.
5. Turnbull IC, Karakikes I, SerraoGW, Backeris P, Lee JJ, Xie C, Senyei G, Gordon RE, Li RA, Akar FG, Hajjar RJ, Hulot JS, Costa KD. Advancing functional engineered cardiac tissues toward a preclinical model of human myocardium. FASEB J 2014; 28:644-654.
6. Musunuru K. Genome editing of human pluripotent stem cells to generate human cellular disease models. Dis Model Mech 2013;6:896-904.