Human induced pluripotent stem cells for monogenic disease modelling and therapy

Generation of Neural Cells from DM1 Induced Pluripotent Stem Cells As Cellular Model for the Study of Central Nervous System Neuropathogenesis

(2018) Guangbin Xia et al.   Cellular Reprogramming

Functional Correction of Large Factor VIII Gene Chromosomal Inversions in Hemophilia A Patient-Derived iPSCs Using CRISPR-Cas9

(2015) Chul-Yong Park et al.   Cell Stem Cell

Generation of Human Induced Pluripotent Stem Cells from Extraembryonic Tissues of Fetuses Affected by Monogenic Diseases

(2015) Paola Spitalieri et al.   Cellular Reprogramming

Modeling and study of the mechanism of dilated cardiomyopathy using induced pluripotent stem cells derived from individuals with Duchenne muscular dystrophy

(2015) B. Lin et al.   Disease Models & Mechanisms

Dynamic changes of nuclear RNA foci in proliferating DM1 cells

(2015) Guangbin Xia et al.   HISTOCHEMISTRY AND CELL BIOLOGY

Cholangiocytes derived from human induced pluripotent stem cells for disease modeling and drug validation

(2015) Fotios Sampaziotis et al.   NATURE BIOTECHNOLOGY

HPGCD Outperforms HPBCD as a Potential Treatment for Niemann-Pick Disease Type C During Disease Modeling with iPS Cells

(2015) Minami Soga et al.   STEM CELLS

Production of Gene-Corrected Adult Beta Globin Protein in Human Erythrocytes Differentiated from Patient iPSCs After Genome Editing of the Sickle Point Mutation

(2015) Xiaosong Huang et al.   STEM CELLS

Wiskott-Aldrich syndrome iPS cells produce megakaryocytes with defects in cytoskeletal rearrangement and proplatelet formation

(2015) Praewphan Ingrungruanglert et al.   THROMBOSIS AND HAEMOSTASIS

Both TALENs and CRISPR/Cas9 directly target the HBB IVS2–654 (C > T) mutation in β-thalassemia-derived iPSCs

(2015) Peng Xu et al.   Scientific Reports

Functional Gene Correction for Cystic Fibrosis in Lung Epithelial Cells Generated from Patient iPSCs

(2015) Amy L. Firth et al.   Cell Reports

Rescue of an In Vitro Neuron Phenotype Identified in Niemann-Pick Disease, Type C1 Induced Pluripotent Stem Cell-Derived Neurons by Modulating the WNT Pathway and Calcium Signaling

(2015) Anastasia G. Efthymiou et al.   Stem Cells Translational Medicine

Precise Correction of the Dystrophin Gene in Duchenne Muscular Dystrophy Patient Induced Pluripotent Stem Cells by TALEN and CRISPR-Cas9

(2015) Hongmei Lisa Li et al.   Stem Cell Reports

A Safeguard System for Induced Pluripotent Stem Cell-Derived Rejuvenated T Cell Therapy

(2015) Miki Ando et al.   Stem Cell Reports

Targeted Correction and Restored Function of the CFTR Gene in Cystic Fibrosis Induced Pluripotent Stem Cells

(2015) Ana M. Crane et al.   Stem Cell Reports

Modeling diseases of noncoding unstable repeat expansions using mutant pluripotent stem cells

(2015) Shira Yanovsky-Dagan   World Journal of Stem Cells

Three Huntington’s Disease Specific Mutation-Carrying Human Embryonic Stem Cell Lines Have Stable Number of CAG Repeats upon In Vitro Differentiation into Cardiomyocytes

(2015) Laureen Jacquet et al.   PLoS One

Effects of Integrating and Non-Integrating Reprogramming Methods on Copy Number Variation and Genomic Stability of Human Induced Pluripotent Stem Cells

(2015) Xiangjin Kang et al.   PLoS One

Gene Therapy for Inherited Muscle Diseases

(2014) Robynne Braun et al.   AMERICAN JOURNAL OF PHYSICAL MEDICINE & REHABILITATION

Induced pluripotent stem cells for modeling of pediatric neurological disorders

(2014) Jiho Jang et al.   Biotechnology Journal

Cell reprogramming for skeletal dysplasia drug repositioning

(2014) Peter Karagiannis et al.   CELL CYCLE

Progress in gene therapy for primary immunodeficiencies using lentiviral vectors

(2014) Aisha V. Sauer et al.   Current Opinion in Allergy and Clinical Immunology

GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells

(2014) Gabriella Livide et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Modeling of hemophilia A using patient-specific induced pluripotent stem cells derived from urine cells

(2014) Bei Jia et al.   LIFE SCIENCES

Statin treatment rescues FGFR3 skeletal dysplasia phenotypes

(2014) Akihiro Yamashita et al.   NATURE

Targeted inversion and reversion of the blood coagulation factor 8 gene in human iPS cells using TALENs

(2014) C.-Y. Park et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

iPSC-Derived Forebrain Neurons from FXS Individuals Show Defects in Initial Neurite Outgrowth

(2014) Matthew E. Doers et al.   STEM CELLS AND DEVELOPMENT

Pathological roles of the VEGF/SphK pathway in Niemann–Pick type C neurons

(2014) Hyun Lee et al.   Nature Communications

Human placenta-derived neurospheres are susceptible to transformation after extensive in vitro expansion

(2014) Donatella Amendola et al.   Stem Cell Research & Therapy

Alteration in basal and depolarization induced transcriptional network in iPSC derived neurons from Timothy syndrome

(2014) Yuan Tian et al.   Genome Medicine

Induced Pluripotent Stem Cells Reveal Functional Differences Between Drugs Currently Investigated in Patients With Hutchinson-Gilford Progeria Syndrome

(2014) Sophie Blondel et al.   Stem Cells Translational Medicine

Genetic and Chemical Correction of Cholesterol Accumulation and Impaired Autophagy in Hepatic and Neural Cells Derived from Niemann-Pick Type C Patient-Specific iPS Cells

(2014) Dorothea Maetzel et al.   Stem Cell Reports

Enhanced Efficiency of Human Pluripotent Stem Cell Genome Editing through Replacing TALENs with CRISPRs

(2013) Qiurong Ding et al.   Cell Stem Cell

Muscular dystrophy

(2013) Eugenio Mercuri et al.   CURRENT OPINION IN PEDIATRICS

Length-dependent CTG{middle dot}CAG triplet-repeat expansion in myotonic dystrophy patient-derived induced pluripotent stem cells

(2013) J. Du et al.   HUMAN MOLECULAR GENETICS

Modeling induced pluripotent stem cells from fibroblasts of Duchenne muscular dystrophy patients

(2013) Yumei Luo et al.   INTERNATIONAL JOURNAL OF NEUROSCIENCE

TALEN-based Gene Correction for Epidermolysis Bullosa

(2013) Mark J Osborn et al.   MOLECULAR THERAPY

Stem cells cruise to clinic

(2013) David Cyranoski   NATURE

Deterministic direct reprogramming of somatic cells to pluripotency

(2013) Yoach Rais et al.   NATURE

High-frequency off-target mutagenesis induced by CRISPR-Cas nucleases in human cells

(2013) Yanfang Fu et al.   NATURE BIOTECHNOLOGY

Stem cells: A recapitulation of development

(2013) Yuben Moodley et al.   RESPIROLOGY

Pluripotent Stem Cells Induced from Mouse Somatic Cells by Small-Molecule Compounds

(2013) P. Hou et al.   SCIENCE

Lentiviral Hematopoietic Stem Cell Gene Therapy in Patients with Wiskott-Aldrich Syndrome

(2013) A. Aiuti et al.   SCIENCE

Lentiviral Hematopoietic Stem Cell Gene Therapy Benefits Metachromatic Leukodystrophy

(2013) A. Biffi et al.   SCIENCE

RNA-Guided Human Genome Engineering via Cas9

(2013) P. Mali et al.   SCIENCE

Multiplex Genome Engineering Using CRISPR/Cas Systems

(2013) L. Cong et al.   SCIENCE

Amniotic Fluid and Placental Membranes: Unexpected Sources of Highly Multipotent Cells

(2013) Sean Murphy et al.   SEMINARS IN REPRODUCTIVE MEDICINE

Induced pluripotent stem (iPS) cells from human fetal stem cells (hFSCs)

(2013) Valentina Spinelli et al.   Organogenesis

Quantitative proteomic analysis of induced pluripotent stem cells derived from a human Huntington's disease patient

(2012) Jung-Il Chae et al.   BIOCHEMICAL JOURNAL

Single-Cell Expression Analyses during Cellular Reprogramming Reveal an Early Stochastic and a Late Hierarchic Phase

(2012) Yosef Buganim et al.   CELL

Generation of Multipotent Lung and Airway Progenitors from Mouse ESCs and Patient-Specific Cystic Fibrosis iPSCs

(2012) Hongmei Mou et al.   Cell Stem Cell

Induced Pluripotent Stem Cells from Patients with Huntington's Disease Show CAG-Repeat-Expansion-Associated Phenotypes

(2012) The HD iPSC Consortium   Cell Stem Cell

Induced Pluripotent Stem Cells: Past, Present, and Future

(2012) Shinya Yamanaka   Cell Stem Cell

A TALEN Genome-Editing System for Generating Human Stem Cell-Based Disease Models

(2012) Qiurong Ding et al.   Cell Stem Cell

Human disease modeling with induced pluripotent stem cells

(2012) Alan Trounson et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Progress made in the reprogramming field: new factors, new strategies and a new outlook

(2012) Samer MI Hussein et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

JD induced pluripotent stem cell-derived hepatocytes faithfully recapitulate the pathophysiology of familial hypercholesterolemia

(2012) Max A. Cayo et al.   HEPATOLOGY

VPA response in SMA is suppressed by the fatty acid translocase CD36

(2012) L. Garbes et al.   HUMAN MOLECULAR GENETICS

Disease-Corrected Hepatocyte-Like Cells from Familial Hypercholesterolemia-Induced Pluripotent Stem Cells

(2012) Faranak Fattahi et al.   MOLECULAR BIOTECHNOLOGY

Myoblasts Derived From Normal hESCs and Dystrophic hiPSCs Efficiently Fuse With Existing Muscle Fibers Following Transplantation

(2012) Sébastien Goudenege et al.   MOLECULAR THERAPY

The first reported generation of several induced pluripotent stem cell lines from homozygous and heterozygous Huntington's disease patients demonstrates mutation related enhanced lysosomal activity

(2012) Stefano Camnasio et al.   NEUROBIOLOGY OF DISEASE

Gene therapy for muscular dystrophy: Lessons learned and path forward

(2012) Jerry R. Mendell et al.   NEUROSCIENCE LETTERS

Inhibition of Apoptosis Blocks Human Motor Neuron Cell Death in a Stem Cell Model of Spinal Muscular Atrophy

(2012) Dhruv Sareen et al.   PLoS One

Neuronal Properties, In Vivo Effects, and Pathology of a Huntington's Disease Patient-Derived Induced Pluripotent Stem Cells

(2012) Iksoo Jeon et al.   STEM CELLS

Astrocytes generated from patient induced pluripotent stem cells recapitulate features of Huntington’s disease patient cells

(2012) Tarja A Juopperi et al.   Molecular Brain

Amniotic Fluid Stem Cells: Future Perspectives

(2012) Margit Rosner et al.   Stem Cells International

Rapamycin and other longevity-promoting compounds enhance the generation of mouse induced pluripotent stem cells

(2011) Taotao Chen et al.   AGING CELL

Site-specific gene correction of a point mutation in human iPS cells derived from an adult patient with sickle cell disease

(2011) J. Zou et al.   BLOOD

Lithium, an anti-psychotic drug, greatly enhances the generation of induced pluripotent stem cells

(2011) Quan Wang et al.   CELL RESEARCH

Targeted chromosomal duplications and inversions in the human genome using zinc finger nucleases

(2011) H. J. Lee et al.   GENOME RESEARCH

Efficient and Accurate Homologous Recombination in hESCs and hiPSCs Using Helper-dependent Adenoviral Vectors

(2011) Emi Aizawa et al.   MOLECULAR THERAPY

Recapitulation of premature ageing with iPSCs from Hutchinson–Gilford progeria syndrome

(2011) Guang-Hui Liu et al.   NATURE

Genetic engineering of human pluripotent cells using TALE nucleases

(2011) Dirk Hockemeyer et al.   NATURE BIOTECHNOLOGY

Using iPSC-derived neurons to uncover cellular phenotypes associated with Timothy syndrome

(2011) Sergiu P Paşca et al.   NATURE MEDICINE

A more efficient method to generate integration-free human iPS cells

(2011) Keisuke Okita et al.   NATURE METHODS

Epigenetic Characterization of the FMR1 Gene and Aberrant Neurodevelopment in Human Induced Pluripotent Stem Cell Models of Fragile X Syndrome

(2011) Steven D. Sheridan et al.   PLoS One

Correction of the F508del-CFTR protein processing defect in vitro by the investigational drug VX-809

(2011) F. Van Goor et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Neuronal maturation defect in induced pluripotent stem cells from patients with Rett syndrome

(2011) K.-Y. Kim et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Brief Report: Phenotypic Rescue of Induced Pluripotent Stem Cell-Derived Motoneurons of a Spinal Muscular Atrophy Patient

(2011) Tammy Chang et al.   STEM CELLS

In Situ Genetic Correction of the Sickle Cell Anemia Mutation in Human Induced Pluripotent Stem Cells Using Engineered Zinc Finger Nucleases

(2011) Vittorio Sebastiano et al.   STEM CELLS

Results of a phase IIa study of VX-809, an investigational CFTR corrector compound, in subjects with cystic fibrosis homozygous for theF508del-CFTRmutation

(2011) J P Clancy et al.   THORAX

Reprogramming of human fibroblasts to pluripotent stem cells using mRNA of four transcription factors

(2010) Eduard Yakubov et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

A Model for Neural Development and Treatment of Rett Syndrome Using Human Induced Pluripotent Stem Cells

(2010) Maria C.N. Marchetto et al.   CELL

Synthetic mRNAs: Powerful Tools for Reprogramming and Differentiation of Human Cells

(2010) Alessandro Rosa et al.   Cell Stem Cell

Differential Modeling of Fragile X Syndrome by Human Embryonic Stem Cells and Induced Pluripotent Stem Cells

(2010) Achia Urbach et al.   Cell Stem Cell

Modeling Disease in Human ESCs Using an Efficient BAC-Based Homologous Recombination System

(2010) Hoseok Song et al.   Cell Stem Cell

Vitamin C Enhances the Generation of Mouse and Human Induced Pluripotent Stem Cells

(2010) Miguel Angel Esteban et al.   Cell Stem Cell

Highly Efficient Reprogramming to Pluripotency and Directed Differentiation of Human Cells with Synthetic Modified mRNA

(2010) Luigi Warren et al.   Cell Stem Cell

A Human iPSC Model of Hutchinson Gilford Progeria Reveals Vascular Smooth Muscle and Mesenchymal Stem Cell Defects

(2010) Jinqiu Zhang et al.   Cell Stem Cell

Robust activation of the human but not mouse telomerase gene during the induction of pluripotency

(2010) Renjith Mathew et al.   FASEB JOURNAL

Beta-thalassemia

(2010) Antonio Cao et al.   GENETICS IN MEDICINE

Generation of human induced pluripotent stem cells from liver progenitor cells by only small molecules

(2010) Moriguchi Hisashi et al.   HEPATOLOGY

Modeling inherited metabolic disorders of the liver using human induced pluripotent stem cells

(2010) S. Tamir Rashid et al.   JOURNAL OF CLINICAL INVESTIGATION

Aberrant silencing of imprinted genes on chromosome 12qF1 in mouse induced pluripotent stem cells

(2010) Matthias Stadtfeld et al.   NATURE

Epigenetic memory in induced pluripotent stem cells

(2010) K. Kim et al.   NATURE

Genomic safe harbors permit high β-globin transgene expression in thalassemia induced pluripotent stem cells

(2010) Eirini P Papapetrou et al.   NATURE BIOTECHNOLOGY

A nonviral minicircle vector for deriving human iPS cells

(2010) Fangjun Jia et al.   NATURE METHODS

Human stem cells and drug screening: opportunities and challenges

(2010) Allison D. Ebert et al.   NATURE REVIEWS DRUG DISCOVERY

Patient-Specific Induced Pluripotent Stem-Cell Models for Long-QT Syndrome

(2010) Alessandra Moretti et al.   NEW ENGLAND JOURNAL OF MEDICINE

Human embryonic stem cells with biological and epigenetic characteristics similar to those of mouse ESCs

(2010) J. Hanna et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Generation of Transgene-Free Lung Disease-Specific Human Induced Pluripotent Stem Cells Using a Single Excisable Lentiviral Stem Cell Cassette

(2010) Aba Somers et al.   STEM CELLS

Butyrate Greatly Enhances Derivation of Human Induced Pluripotent Stem Cells by Promoting Epigenetic Remodeling and the Expression of Pluripotency-Associated Genes

(2010) Prashant Mali et al.   STEM CELLS

Bone marrow stromal cells as replacement cells for Parkinson’s disease: generation of an anatomical but not functional neuronal phenotype

(2010) Meghan G. Thomas et al.   Translational Research

Parkinson's Disease Patient-Derived Induced Pluripotent Stem Cells Free of Viral Reprogramming Factors

(2009) Frank Soldner et al.   CELL

Generation of induced pluripotent stem cells from human β-thalassemia fibroblast cells

(2009) Yixuan Wang et al.   CELL RESEARCH

Telomeres Acquire Embryonic Stem Cell Characteristics in Induced Pluripotent Stem Cells

(2009) Rosa M. Marion et al.   Cell Stem Cell

Generation of Human Induced Pluripotent Stem Cells by Direct Delivery of Reprogramming Proteins

(2009) Dohoon Kim et al.   Cell Stem Cell

Targeted chromosomal deletions in human cells using zinc finger nucleases

(2009) H. J. Lee et al.   GENOME RESEARCH

Targeted genome editing in human cells with zinc finger nucleases constructed via modular assembly

(2009) H. J. Kim et al.   GENOME RESEARCH

Virus-free induction of pluripotency and subsequent excision of reprogramming factors

(2009) Keisuke Kaji et al.   NATURE

piggyBac transposition reprograms fibroblasts to induced pluripotent stem cells

(2009) Knut Woltjen et al.   NATURE

Induced pluripotent stem cells offer new approach to therapy in thalassemia and sickle cell anemia and option in prenatal diagnosis in genetic diseases

(2009) L. Ye et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Breaking the Code of DNA Binding Specificity of TAL-Type III Effectors

(2009) J. Boch et al.   SCIENCE

A Simple Cipher Governs DNA Recognition by TAL Effectors

(2009) M. J. Moscou et al.   SCIENCE

Excision of Reprogramming Transgenes Improves the Differentiation Potential of iPS Cells Generated with a Single Excisable Vector

(2009) Cesar A. Sommer et al.   STEM CELLS

Identification of Multipotent Cytotrophoblast Cells from Human First Trimester Chorionic Villi

(2009) Paola Spitalieri et al.   Cloning Stem Cells

Ten years of gene therapy for primary immune deficiencies

(2009) A. Aiuti et al.   Hematology-American Society of Hematology Education Program

Two Supporting Factors Greatly Improve the Efficiency of Human iPSC Generation

(2008) Yang Zhao et al.   Cell Stem Cell

Pluripotent stem cell lines

(2008) J. Yu et al.   GENES & DEVELOPMENT

Rapid “Open-Source” Engineering of Customized Zinc-Finger Nucleases for Highly Efficient Gene Modification

(2008) Morgan L. Maeder et al.   MOLECULAR CELL

Induced pluripotent stem cells from a spinal muscular atrophy patient

(2008) Allison D. Ebert et al.   NATURE

Dissecting direct reprogramming through integrative genomic analysis

(2008) Tarjei S. Mikkelsen et al.   NATURE

Induction of pluripotent stem cells from primary human fibroblasts with only Oct4 and Sox2

(2008) Danwei Huangfu et al.   NATURE BIOTECHNOLOGY

Highly efficient transient gene expression and gene targeting in primate embryonic stem cells with helper-dependent adenoviral vectors

(2008) K. Suzuki et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Generation of Mouse Induced Pluripotent Stem Cells Without Viral Vectors

(2008) K. Okita et al.   SCIENCE

Induced Pluripotent Stem Cell Generation Using a Single Lentiviral Stem Cell Cassette

(2008) Cesar A. Sommer et al.   STEM CELLS