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ArticlesPeer ReviewedFull Text
Generation of the First Human In Vitro Model for McArdle Disease Based on iPSC Technology
Author / Creator:Ortuño-Costela, María del Carmen ; Cerrada, Victoria ; Moreno-Izquierdo, Ana ; García-Consuegra, Inés ; Laberthonnière, Camille ; Delourme, Mégane ; Garesse, Rafael ; Arenas, Joaquín ; Fuster García, Carla ; García García, Gema ; Millán, José María ; Magdinier, Frédérique ; Gallardo, María Esther
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2022-11, Vol.23 (22), p.13964
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ArticlesFull Text
Reports Outline Myopathy Study Findings from University of Bonn [Generation of Two Isogenic Control Lines By Correcting the ibag3/i P209l Mutation of Human Induced Pluripotent Stem Cell (Hipsc) Lines...
Publisher:NewsRX LLC
Journal title:Stem cell week, 2025-02, p.2684
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ArticlesPeer ReviewedFull Text
Creation of an Isogenic Human iPSC-Based RGC Model of Dominant Optic Atrophy Harboring the Pathogenic Variant c.1861C>T (p.Gln621Ter) in the OPA1 Gene
Author / Creator:García-López, Marta ; Jiménez-Vicente, Lydia ; González-Jabardo, Raquel ; Dorado, Helena ; Gómez-Manjón, Irene ; Martín, Miguel Ángel ; Ayuso, Carmen ; Arenas, Joaquín ; Gallardo, María Esther
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2024-06, Vol.25 (13), p.7240
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ArticlesFull Text
New Myopathy Findings Has Been Reported by Investigators at University of Bonn [Generation and Characterization of an Isogenic Control Line By Correcting Thei Bag3/i P209l Mutation of a Human Induced...
Publisher:NewsRX LLC
Journal title:Stem cell week, 2025-02, p.2174
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ArticlesPeer ReviewedFull Text
Personalized medicine in the dish to prevent calcium leak associated with short-coupled polymorphic ventricular tachycardia in patient-derived cardiomyocytes
Author / Creator:Sleiman, Yvonne ; Reiken, Steven ; Charrabi, Azzouz ; Jaffré, Fabrice ; Sittenfeld, Leah R. ; Pasquié, Jean-Luc ; Colombani, Sarah ; Lerman, Bruce B. ; Chen, Shuibing ; Marks, Andrew R. ; Cheung, Jim W. ; Evans, Todd ; Lacampagne, Alain ; Meli, Albano C.
Publisher:England: BioMed Central Ltd
Journal title:Stem cell research & therapy, 2023-09, Vol.14 (1), p.266-17, Article 266
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ArticlesPeer ReviewedFull Text
Generation of Isogenic Controls for In Vitro Disease Modelling of X-Chromosomal Disorders
Author / Creator:Hinz, Lisa ; Hoekstra, Stephanie D. ; Watanabe, Kyoko ; Posthuma, Danielle ; Heine, Vivi M.
Publisher:New York: Springer US
Journal title:Stem cell reviews, 2019-04, Vol.15 (2), p.276-285
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ArticlesPeer ReviewedFull Text
Utility of Induced Pluripotent Stem Cells for the Study and Treatment of Genetic Diseases: Focus on Childhood Neurological Disorders
Author / Creator:Barral, Serena ; Kurian, Manju A.
Publisher:Switzerland: Frontiers Research Foundation
Journal title:Frontiers in molecular neuroscience, 2016-09, Vol.9, p.78-78
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ArticlesPeer ReviewedFull Text
Utility of Human Derived Induced Pluripotent Stem Cells for the Study and Treatment of Childhood Neurological Disorders
Author / Creator:Serena Barral ; Manju Ann Kurian ; Manju Ann Kurian
Publisher:Frontiers Media S.A
Journal title:Frontiers in molecular neuroscience, 2016-09, Vol.9
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ArticlesFull Text
Reports from Scripps Research Institute Describe Recent Advances in Alzheimer Disease (Mechanisms of hyperexcitability in Alzheimer's disease hiPSC-derived neurons and cerebral organoids vs. isogenic...
Publisher:NewsRX LLC
Journal title:Obesity, fitness, & wellness week, 2019-12, p.4490
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Newsletter articlesFull Text
New Gene Editing Research from Georg-August University Gottingen Outlined [Generation of a pluripotent stem cell line (UMGi270-A) and a corresponding CRISPR/Cas9 modified isogenic control (UMGi270-A-1...
Publisher:NewsRX LLC
Journal title:Cardiovascular Week, 2024, p.345
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Newsletter articlesFull Text
Studies from University Medical Center Hamburg-Eppendorf Update Current Data on Hypertrophic Cardiomyopathy (Generation of bi-allelic MYBPC3 truncating mutant and isogenic control from an iPSC line of...
Publisher:NewsRX LLC
Journal title:Health & Medicine Week, 2021, p.6415
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Newsletter articlesFull Text
Researchers from Scripps Research Institute Describe Findings in Alzheimer Disease (Mechanisms of hyperexcitability in Alzheimer's disease hiPSC-derived neurons and cerebral organoids vs. isogenic con...
Publisher:NewsRX LLC
Journal title:Health & Medicine Week, 2020, p.5602
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ArticlesPeer ReviewedFull Text
Mechanisms of hyperexcitability in Alzheimer’s disease hiPSC-derived neurons and cerebral organoids vs isogenic controls
Author / Creator:Ghatak, Swagata ; Dolatabadi, Nima ; Trudler, Dorit ; Zhang, XiaoTong ; Wu, Yin ; Mohata, Madhav ; Ambasudhan, Rajesh ; Talantova, Maria ; Lipton, Stuart A
Publisher:England: eLife Science Publications, Ltd
Journal title:eLife, 2019-11, Vol.8
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ArticlesPeer ReviewedFull Text
CRISPR/Cas9 gene editing in induced pluripotent stem cells to investigate the feline hypertrophic cardiomyopathy causing MYBPC3/R820W mutation
Author / Creator:Dutton, Luke C. ; Dudhia, Jayesh ; Guest, Deborah J. ; Connolly, David J.
Publisher:United States: Public Library of Science
Journal title:PloS one, 2024-10, Vol.19 (10), p.e0311761
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ArticlesPeer ReviewedFull Text
Intermediate filament dysregulation in astrocytes in the human disease model of KLHL16 mutation in giant axonal neuropathy (GAN)
Author / Creator:Battaglia, Rachel A. ; Faridounnia, Maryam ; Beltran, Adriana ; Robinson, Jasmine ; Kinghorn, Karina ; Ezzell, J. Ashley ; Bharucha-Goebel, Diana ; Bönnemann, Carsten G. ; Hooper, Jody E. ; Opal, Puneet ; Bouldin, Thomas W. ; Armao, Diane ; Snider, Natasha T.
Publisher:United States: American Society for Cell Biology
Journal title:Molecular biology of the cell, 2023-11, Vol.34 (12), p.mbcE23030094-mbcE23030094
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ArticlesPeer ReviewedFull Text
Micro-and mesoscale aspects of neurodegeneration in engineered human neural networks carrying the LRRK2 G2019S mutation
Author / Creator:Valderhaug, Vibeke Devold ; Ramstad, Ola Huse ; van de Wijdeven, Rosanne ; Heiney, Kristine ; Nichele, Stefano ; Sandvig, Axel ; Sandvig, Ioanna
Publisher:Switzerland: Frontiers Research Foundation
Journal title:Frontiers in cellular neuroscience, 2024, Vol.18, p.1366098
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Reversal of the Inflammatory Responses in Fabry Patient iPSC-Derived Cardiovascular Endothelial Cells by CRISPR/Cas9-Corrected Mutation
Author / Creator:Song, Hui-Yung ; Yang, Yi-Ping ; Chien, Yueh ; Lai, Wei-Yi ; Lin, Yi-Ying ; Chou, Shih-Jie ; Wang, Mong-Lien ; Wang, Chien-Ying ; Leu, Hsin-Bang ; Yu, Wen-Chung ; Chien, Chian-Shiu
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2021-02, Vol.22 (5), p.2381
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Disease modeling of a mutation in α‐actinin 2 guides clinical therapy in hypertrophic cardiomyopathy
Author / Creator:Prondzynski, Maksymilian ; Lemoine, Marc D ; Zech, Antonia TL ; Horváth, András ; Di Mauro, Vittoria ; Koivumäki, Jussi T ; Kresin, Nico ; Busch, Josefine ; Krause, Tobias ; Krämer, Elisabeth ; Schlossarek, Saskia ; Spohn, Michael ; Friedrich, Felix W ; Münch, Julia ; Laufer, Sandra D ; Redwood, Charles ; Volk, Alexander E ; Hansen, Arne ; Mearini, Giulia ; Catalucci, Daniele ; Meyer, Christian ; Christ, Torsten ; Patten, Monica ; Eschenhagen, Thomas ; Carrier, Lucie
Publisher:London: Nature Publishing Group UK
Journal title:EMBO molecular medicine, 2019-12, Vol.11 (12), p.e11115-n/a
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FUS-ALS hiPSC-derived astrocytes impair human motor units through both gain-of-toxicity and loss-of-support mechanisms
Author / Creator:Stoklund Dittlau, Katarina ; Terrie, Lisanne ; Baatsen, Pieter ; Kerstens, Axelle ; De Swert, Lim ; Janky, Rekin’s ; Corthout, Nikky ; Masrori, Pegah ; Van Damme, Philip ; Hyttel, Poul ; Meyer, Morten ; Thorrez, Lieven ; Freude, Kristine ; Van Den Bosch, Ludo
Publisher:England: BioMed Central Ltd
Journal title:Molecular neurodegeneration, 2023-01, Vol.18 (1), p.5-26, Article 5
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Activation of PDGF pathway links LMNA mutation to dilated cardiomyopathy
Author / Creator:Lee, Jaecheol ; Termglinchan, Vittavat ; Diecke, Sebastian ; Itzhaki, Ilanit ; Lam, Chi Keung ; Garg, Priyanka ; Lau, Edward ; Greenhaw, Matthew ; Seeger, Timon ; Wu, Haodi ; Zhang, Joe Z. ; Chen, Xingqi ; Gil, Isaac Perea ; Ameen, Mohamed ; Sallam, Karim ; Rhee, June-Wha ; Churko, Jared M. ; Chaudhary, Rinkal ; Chour, Tony ; Wang, Paul J. ; Snyder, Michael P. ; Chang, Howard Y. ; Karakikes, Ioannis ; Wu, Joseph C.
Publisher:London: Nature Publishing Group UK
Journal title:Nature (London), 2019-08, Vol.572 (7769), p.335-340
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Generation of the First Human In Vitro Model for McArdle Disease Based on iPSC Technology

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Reports Outline Myopathy Study Findings from University of Bonn [Generation of Two Isogenic Control Lines By Correcting the ibag3/i P209l Mutation of Human Induced Pluripotent Stem Cell (Hipsc) Lines...

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Creation of an Isogenic Human iPSC-Based RGC Model of Dominant Optic Atrophy Harboring the Pathogenic Variant c.1861C>T (p.Gln621Ter) in the OPA1 Gene

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New Myopathy Findings Has Been Reported by Investigators at University of Bonn [Generation and Characterization of an Isogenic Control Line By Correcting Thei Bag3/i P209l Mutation of a Human Induced...

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Personalized medicine in the dish to prevent calcium leak associated with short-coupled polymorphic ventricular tachycardia in patient-derived cardiomyocytes

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Generation of Isogenic Controls for In Vitro Disease Modelling of X-Chromosomal Disorders

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Utility of Induced Pluripotent Stem Cells for the Study and Treatment of Genetic Diseases: Focus on Childhood Neurological Disorders

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Utility of Human Derived Induced Pluripotent Stem Cells for the Study and Treatment of Childhood Neurological Disorders

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Reports from Scripps Research Institute Describe Recent Advances in Alzheimer Disease (Mechanisms of hyperexcitability in Alzheimer's disease hiPSC-derived neurons and cerebral organoids vs. isogenic...

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New Gene Editing Research from Georg-August University Gottingen Outlined [Generation of a pluripotent stem cell line (UMGi270-A) and a corresponding CRISPR/Cas9 modified isogenic control (UMGi270-A-1...

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Studies from University Medical Center Hamburg-Eppendorf Update Current Data on Hypertrophic Cardiomyopathy (Generation of bi-allelic MYBPC3 truncating mutant and isogenic control from an iPSC line of...

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Researchers from Scripps Research Institute Describe Findings in Alzheimer Disease (Mechanisms of hyperexcitability in Alzheimer's disease hiPSC-derived neurons and cerebral organoids vs. isogenic con...

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Mechanisms of hyperexcitability in Alzheimer’s disease hiPSC-derived neurons and cerebral organoids vs isogenic controls

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CRISPR/Cas9 gene editing in induced pluripotent stem cells to investigate the feline hypertrophic cardiomyopathy causing MYBPC3/R820W mutation

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Intermediate filament dysregulation in astrocytes in the human disease model of KLHL16 mutation in giant axonal neuropathy (GAN)

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Micro-and mesoscale aspects of neurodegeneration in engineered human neural networks carrying the LRRK2 G2019S mutation

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Reversal of the Inflammatory Responses in Fabry Patient iPSC-Derived Cardiovascular Endothelial Cells by CRISPR/Cas9-Corrected Mutation

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Disease modeling of a mutation in α‐actinin 2 guides clinical therapy in hypertrophic cardiomyopathy

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FUS-ALS hiPSC-derived astrocytes impair human motor units through both gain-of-toxicity and loss-of-support mechanisms

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Activation of PDGF pathway links LMNA mutation to dilated cardiomyopathy

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