Literature DB >> 29653394

Generation of Duchenne muscular dystrophy patient-specific induced pluripotent stem cell line lacking exons 45-50 of the dystrophin gene (IITi001-A).

Binyamin Eisen1, Ronen Ben Jehuda2, Ashley J Cuttitta3, Lucy N Mekies1, Irina Reiter1, Sindhu Ramchandren4, Michael Arad5, Daniel E Michele6, Ofer Binah7.   

Abstract

Duchenne muscular dystrophy (DMD) is an X-linked progressive muscle degenerative disease caused by mutations in the dystrophin gene. We generated induced pluripotent stem cells (iPSCs) from a 13-year-old male patient carrying a deletion mutation of exons 45-50; iPSCs were subsequently differentiated into cardiomyocytes. iPSCs exhibit expression of the pluripotent markers (SOX2, NANOG, OCT4), differentiation capacity into the three germ layers, normal karyotype, genetic identity to the skin biopsy dermal fibroblasts and the patient-specific dystrophin mutation.
Copyright © 2018 The Authors. Published by Elsevier B.V. All rights reserved.

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Year:  2018        PMID： 29653394      PMCID： PMC5999581          DOI： 10.1016/j.scr.2018.03.023

Source DB:  PubMed          Journal:  Stem Cell Res        ISSN： 1873-5061            Impact factor:   2.020


  5 in total

1.  Contemporary cardiac issues in Duchenne muscular dystrophy. Working Group of the National Heart, Lung, and Blood Institute in collaboration with Parent Project Muscular Dystrophy.

Authors:  Elizabeth M McNally; Jonathan R Kaltman; D Woodrow Benson; Charles E Canter; Linda H Cripe; Dongsheng Duan; Jonathan D Finder; William J Groh; Eric P Hoffman; Daniel P Judge; Naomi Kertesz; Kathi Kinnett; Roxanne Kirsch; Joseph M Metzger; Gail D Pearson; Jill A Rafael-Fortney; Subha V Raman; Christopher F Spurney; Shari L Targum; Kathryn R Wagner; Larry W Markham
Journal:  Circulation       Date:  2015-05-05       Impact factor: 29.690

2.  CRISPR correction of the PRKAG2 gene mutation in the patient's induced pluripotent stem cell-derived cardiomyocytes eliminates electrophysiological and structural abnormalities.

Authors:  Ronen Ben Jehuda; Binyamin Eisen; Yuval Shemer; Lucy N Mekies; Agnes Szantai; Irina Reiter; Huanhuan Cui; Kaomei Guan; Shiraz Haron-Khun; Dov Freimark; Silke R Sperling; Mihaela Gherghiceanu; Michael Arad; Ofer Binah
Journal:  Heart Rhythm       Date:  2017-09-14       Impact factor: 6.343

3.  Delayed cardiomyopathy in dystrophin deficient mdx mice relies on intrinsic glutathione resource.

Authors:  Lara Khouzami; Marie-Claude Bourin; Christo Christov; Thibaud Damy; Brigitte Escoubet; Philippe Caramelle; Magali Perier; Karim Wahbi; Christophe Meune; Catherine Pavoine; Françoise Pecker
Journal:  Am J Pathol       Date:  2010-08-09       Impact factor: 4.307

4.  Deletion and duplication screening in the DMD gene using MLPA.

Authors:  Tanja Lalic; Rolf H A M Vossen; Jordy Coffa; Jan P Schouten; Marija Guc-Scekic; Danijela Radivojevic; Marina Djurisic; Martÿn H Breuning; Stefan J White; Johan T den Dunnen
Journal:  Eur J Hum Genet       Date:  2005-11       Impact factor: 4.246

5.  Directed cardiomyocyte differentiation from human pluripotent stem cells by modulating Wnt/β-catenin signaling under fully defined conditions.

Authors:  Xiaojun Lian; Jianhua Zhang; Samira M Azarin; Kexian Zhu; Laurie B Hazeltine; Xiaoping Bao; Cheston Hsiao; Timothy J Kamp; Sean P Palecek
Journal:  Nat Protoc       Date:  2012-12-20       Impact factor: 13.491
  5 in total
  7 in total

1.  SNTA1 gene rescues ion channel function and is antiarrhythmic in cardiomyocytes derived from induced pluripotent stem cells from muscular dystrophy patients.

Authors:  Eric N Jimenez-Vazquez; Michael Arad; Álvaro Macías; Maria L Vera-Pedrosa; Francisco Miguel Cruz; Lilian K Gutierrez; Ashley J Cuttita; André Monteiro da Rocha; Todd J Herron; Daniela Ponce-Balbuena; Guadalupe Guerrero-Serna; Ofer Binah; Daniel E Michele; José Jalife
Journal:  Elife       Date:  2022-06-28       Impact factor: 8.713

Review 2.  Dystrophin Cardiomyopathies: Clinical Management, Molecular Pathogenesis and Evolution towards Precision Medicine.

Authors:  Domenico D'Amario; Aoife Gowran; Francesco Canonico; Elisa Castiglioni; Davide Rovina; Rosaria Santoro; Pietro Spinelli; Rachele Adorisio; Antonio Amodeo; Gianluca Lorenzo Perrucci; Josip A Borovac; Giulio Pompilio; Filippo Crea
Journal:  J Clin Med       Date:  2018-09-19       Impact factor: 4.241

3.  Electrophysiological abnormalities in induced pluripotent stem cell-derived cardiomyocytes generated from Duchenne muscular dystrophy patients.

Authors:  Binyamin Eisen; Ronen Ben Jehuda; Ashley J Cuttitta; Lucy N Mekies; Yuval Shemer; Polina Baskin; Irina Reiter; Lubna Willi; Dov Freimark; Mihaela Gherghiceanu; Lorenzo Monserrat; Michaela Scherr; Denise Hilfiker-Kleiner; Michael Arad; Daniel E Michele; Ofer Binah
Journal:  J Cell Mol Med       Date:  2019-01-08       Impact factor: 5.310

4.  Bioenergetic and Metabolic Impairments in Induced Pluripotent Stem Cell-Derived Cardiomyocytes Generated from Duchenne Muscular Dystrophy Patients.

Authors:  Lubna Willi; Ifat Abramovich; Jonatan Fernandez-Garcia; Bella Agranovich; Margarita Shulman; Helena Milman; Polina Baskin; Binyamin Eisen; Daniel E Michele; Michael Arad; Ofer Binah; Eyal Gottlieb
Journal:  Int J Mol Sci       Date:  2022-08-29       Impact factor: 6.208

5.  Functional abnormalities in induced Pluripotent Stem Cell-derived cardiomyocytes generated from titin-mutated patients with dilated cardiomyopathy.

Authors:  Revital Schick; Lucy N Mekies; Yuval Shemer; Binyamin Eisen; Tova Hallas; Ronen Ben Jehuda; Meital Ben-Ari; Agnes Szantai; Lubna Willi; Rita Shulman; Michael Gramlich; Luna Simona Pane; Ilaria My; Dov Freimark; Marta Murgia; Gianluca Santamaria; Mihaela Gherghiceanu; Michael Arad; Alessandra Moretti; Ofer Binah
Journal:  PLoS One       Date:  2018-10-17       Impact factor: 3.240

Review 6.  A Link between Genetic Disorders and Cellular Impairment, Using Human Induced Pluripotent Stem Cells to Reveal the Functional Consequences of Copy Number Variations in the Central Nervous System-A Close Look at Chromosome 15.

Authors:  Alessia Casamassa; Daniela Ferrari; Maurizio Gelati; Massimo Carella; Angelo Luigi Vescovi; Jessica Rosati
Journal:  Int J Mol Sci       Date:  2020-03-09       Impact factor: 5.923

Review 7.  "Betwixt Mine Eye and Heart a League Is Took": The Progress of Induced Pluripotent Stem-Cell-Based Models of Dystrophin-Associated Cardiomyopathy.

Authors:  Davide Rovina; Elisa Castiglioni; Francesco Niro; Sara Mallia; Giulio Pompilio; Aoife Gowran
Journal:  Int J Mol Sci       Date:  2020-09-23       Impact factor: 5.923
  7 in total

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