Investigating human disease using stem cell models

Modeling ALS with iPSCs Reveals that Mutant SOD1 Misregulates Neurofilament Balance in Motor Neurons

(2014) Hong Chen et al.   Cell Stem Cell

Pathways Disrupted in Human ALS Motor Neurons Identified through Genetic Correction of Mutant SOD1

(2014) Evangelos Kiskinis et al.   Cell Stem Cell

Intrinsic Membrane Hyperexcitability of Amyotrophic Lateral Sclerosis Patient-Derived Motor Neurons

(2014) Brian J. Wainger et al.   Cell Reports

Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC-derived human neurons

(2013) Sandra Almeida et al.   ACTA NEUROPATHOLOGICA

Double Nicking by RNA-Guided CRISPR Cas9 for Enhanced Genome Editing Specificity

(2013) F. Ann Ran et al.   CELL

Isogenic Human iPSC Parkinson’s Model Shows Nitrosative Stress-Induced Dysfunction in MEF2-PGC1α Transcription

(2013) Scott D. Ryan et al.   CELL

Human Embryonic Stem Cells Derived by Somatic Cell Nuclear Transfer

(2013) Masahito Tachibana et al.   CELL

Ca2+ signaling in human induced pluripotent stem cell-derived cardiomyocytes (iPS-CM) from normal and catecholaminergic polymorphic ventricular tachycardia (CPVT)-afflicted subjects

(2013) X.-H. Zhang et al.   CELL CALCIUM

Highly efficient induction and long-term maintenance of multipotent cardiovascular progenitors from human pluripotent stem cells under defined conditions

(2013) Nan Cao et al.   CELL RESEARCH

Human iPSC-Based Modeling of Late-Onset Disease via Progerin-Induced Aging

(2013) Justine D. Miller et al.   Cell Stem Cell

Genetic Correction of a LRRK2 Mutation in Human iPSCs Links Parkinsonian Neurodegeneration to ERK-Dependent Changes in Gene Expression

(2013) Peter Reinhardt et al.   Cell Stem Cell

A Small Molecule Screen in Stem-Cell-Derived Motor Neurons Identifies a Kinase Inhibitor as a Candidate Therapeutic for ALS

(2013) Yin M. Yang et al.   Cell Stem Cell

Modeling Alzheimer’s Disease with iPSCs Reveals Stress Phenotypes Associated with Intracellular Aβ and Differential Drug Responsiveness

(2013) Takayuki Kondo et al.   Cell Stem Cell

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

(2013) Qiurong Ding et al.   Cell Stem Cell

Drug Screening Using a Library of Human Induced Pluripotent Stem Cell–Derived Cardiomyocytes Reveals Disease-Specific Patterns of Cardiotoxicity

(2013) Ping Liang et al.   CIRCULATION

Isogenic human pluripotent stem cell pairs reveal the role of a KCNH2 mutation in long-QT syndrome

(2013) Milena Bellin et al.   EMBO JOURNAL

Efficient drug screening and gene correction for treating liver disease using patient-specific stem cells

(2013) Su Mi Choi et al.   HEPATOLOGY

Modeling type 3 long QT syndrome with cardiomyocytes derived from patient-specific induced pluripotent stem cells

(2013) Dongrui Ma et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Vascularized and functional human liver from an iPSC-derived organ bud transplant

(2013) Takanori Takebe et al.   NATURE

Cerebral organoids model human brain development and microcephaly

(2013) Madeline A. Lancaster et al.   NATURE

CAS9 transcriptional activators for target specificity screening and paired nickases for cooperative genome engineering

(2013) Prashant Mali et al.   NATURE BIOTECHNOLOGY

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

(2013) Yanfang Fu et al.   NATURE BIOTECHNOLOGY

Interplay of LRRK2 with chaperone-mediated autophagy

(2013) Samantha J Orenstein et al.   NATURE NEUROSCIENCE

Timothy syndrome is associated with activity-dependent dendritic retraction in rodent and human neurons

(2013) Jocelyn F Krey et al.   NATURE NEUROSCIENCE

A comparative study of Parkinson's disease and leucine-rich repeat kinase 2 p.G2019S parkinsonism

(2013) Joanne Trinh et al.   NEUROBIOLOGY OF AGING

LRRK2 mutations cause mitochondrial DNA damage in iPSC-derived neural cells from Parkinson's disease patients: Reversal by gene correction

(2013) Laurie H. Sanders et al.   NEUROBIOLOGY OF DISEASE

RNA Toxicity from the ALS/FTD C9ORF72 Expansion Is Mitigated by Antisense Intervention

(2013) Christopher J. Donnelly et al.   NEURON

Derivation and Expansion Using Only Small Molecules of Human Neural Progenitors for Neurodegenerative Disease Modeling

(2013) Peter Reinhardt et al.   PLoS One

Astrocyte pathology and the absence of non-cell autonomy in an induced pluripotent stem cell model of TDP-43 proteinopathy

(2013) A. Serio et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Somatic Mutation, Genomic Variation, and Neurological Disease

(2013) A. Poduri et al.   SCIENCE

Targeting RNA Foci in iPSC-Derived Motor Neurons from ALS Patients with a C9ORF72 Repeat Expansion

(2013) D. Sareen et al.   Science Translational Medicine

Characterization of forebrain neurons derived from late-onset Huntington's disease human embryonic stem cell lines

(2013) Jonathan C. Niclis et al.   Frontiers in Cellular Neuroscience

Human Embryonic Stem Cell Lines Model Experimental Human Cytomegalovirus Latency

(2013) R. R. Penkert et al.   mBio

An iPSC Line from Human Pancreatic Ductal Adenocarcinoma Undergoes Early to Invasive Stages of Pancreatic Cancer Progression

(2013) Jungsun Kim et al.   Cell Reports

Sustained Knockdown of a Disease-Causing Gene in Patient-Specific Induced Pluripotent Stem Cells Using Lentiviral Vector-Based Gene Therapy

(2013) Reto Eggenschwiler et al.   Stem Cells Translational Medicine

Rapid Generation of Functional Dopaminergic Neurons From Human Induced Pluripotent Stem Cells Through a Single-Step Procedure Using Cell Lineage Transcription Factors

(2013) Ilda Theka et al.   Stem Cells Translational Medicine

APP Processing in Human Pluripotent Stem Cell-Derived Neurons Is Resistant to NSAID-Based γ-Secretase Modulation

(2013) Jerome Mertens et al.   Stem Cell Reports

Genetic Correction of Tauopathy Phenotypes in Neurons Derived from Human Induced Pluripotent Stem Cells

(2013) Helen Fong et al.   Stem Cell Reports

Generation of Multipotent Foregut Stem Cells from Human Pluripotent Stem Cells

(2013) Nicholas R.F. Hannan et al.   Stem Cell Reports

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

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

Disease characterization using LQTS-specific induced pluripotent stem cells

(2012) Toru Egashira et al.   CARDIOVASCULAR RESEARCH

Genetic correction of β-thalassemia patient-specific iPS cells and its use in improving hemoglobin production in irradiated SCID mice

(2012) Yixuan Wang et al.   CELL RESEARCH

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

(2012) The HD iPSC Consortium   Cell Stem Cell

Discovery of Inhibitors of Microglial Neurotoxicity Acting Through Multiple Mechanisms Using a Stem-Cell-Based Phenotypic Assay

(2012) Susanne Höing et al.   Cell Stem Cell

Self-Renewing Endodermal Progenitor Lines Generated from Human Pluripotent Stem Cells

(2012) Xin Cheng et al.   Cell Stem Cell

Direct Reprogramming of Fibroblasts into Neural Stem Cells by Defined Factors

(2012) Dong Wook Han et al.   Cell Stem Cell

Genetic Correction of Huntington's Disease Phenotypes in Induced Pluripotent Stem Cells

(2012) Mahru C. An et al.   Cell Stem Cell

Self-Formation of Optic Cups and Storable Stratified Neural Retina from Human ESCs

(2012) Tokushige Nakano et al.   Cell Stem Cell

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

(2012) Qiurong Ding et al.   Cell Stem Cell

Cardiomyocytes Derived From Pluripotent Stem Cells Recapitulate Electrophysiological Characteristics of an Overlap Syndrome of Cardiac Sodium Channel Disease

(2012) Richard P. Davis et al.   CIRCULATION

Differentiation of Human Embryonic Stem Cells and Induced Pluripotent Stem Cells to Cardiomyocytes

(2012) Christine L. Mummery et al.   CIRCULATION RESEARCH

Disease-specific phenotypes in dopamine neurons from human iPS-based models of genetic and sporadic Parkinson's disease

(2012) Adriana Sánchez-Danés et al.   EMBO Molecular Medicine

Induced pluripotent stem cells used to reveal drug actions in a long QT syndrome family with complex genetics

(2012) Cecile Terrenoire et al.   JOURNAL OF GENERAL PHYSIOLOGY

Human pluripotent stem cell-derived hepatocytes support complete replication of hepatitis C virus

(2012) Philip Roelandt et al.   JOURNAL OF HEPATOLOGY

Age at Onset in LRRK2-Associated PD is Modified by SNCA Variants

(2012) Teresa Botta-Orfila et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

Towards germline gene therapy of inherited mitochondrial diseases

(2012) Masahito Tachibana et al.   NATURE

Progressive degeneration of human neural stem cells caused by pathogenic LRRK2

(2012) Guang-Hui Liu et al.   NATURE

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

Mitochondrial DNA copy number is regulated in a tissue specific manner by DNA methylation of the nuclear-encoded DNA polymerase gamma A

(2012) Richard D. W. Kelly et al.   NUCLEIC ACIDS RESEARCH

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

Establishment of Induced Pluripotent Stem Cells from Centenarians for Neurodegenerative Disease Research

(2012) Takuya Yagi et al.   PLoS One

Cell Model of Catecholaminergic Polymorphic Ventricular Tachycardia Reveals Early and Delayed Afterdepolarizations

(2012) Kirsi Kujala et al.   PLoS One

Human Induced Pluripotent Stem Cell-Derived Models to Investigate Human Cytomegalovirus Infection in Neural Cells

(2012) Leonardo D'Aiuto et al.   PLoS One

Modeling hepatitis C virus infection using human induced pluripotent stem cells

(2012) R. E. Schwartz et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutant induced pluripotent stem cell lines recapitulate aspects of TDP-43 proteinopathies and reveal cell-specific vulnerability

(2012) B. Bilican et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genetic Correction of Human Induced Pluripotent Stem Cells from Patients with Spinal Muscular Atrophy

(2012) S. Corti et al.   Science Translational Medicine

A Human Stem Cell Model of Early Alzheimer's Disease Pathology in Down Syndrome

(2012) Y. Shi et al.   Science Translational Medicine

Drug Screening for ALS Using Patient-Specific Induced Pluripotent Stem Cells

(2012) N. Egawa et al.   Science Translational Medicine

Pharmacological Rescue of Mitochondrial Deficits in iPSC-Derived Neural Cells from Patients with Familial Parkinson's Disease

(2012) O. Cooper et al.   Science Translational Medicine

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

Derivation and Functional Analysis of Patient-Specific Induced Pluripotent Stem Cells as an In Vitro Model of Chronic Granulomatous Disease

(2012) Yan Jiang et al.   STEM CELLS

Small Intestinal Submucosa Segments as Matrix for Tissue Engineering: Review

(2012) Birgit Andrée et al.   TISSUE ENGINEERING PART B-REVIEWS

Parkin controls dopamine utilization in human midbrain dopaminergic neurons derived from induced pluripotent stem cells

(2012) Houbo Jiang et al.   Nature Communications

Induced Pluripotent Stem Cell Models of Progranulin-Deficient Frontotemporal Dementia Uncover Specific Reversible Neuronal Defects

(2012) Sandra Almeida et al.   Cell Reports

Mitochondrial dysfunction associated with increased oxidative stress and α-synuclein accumulation in PARK2 iPSC-derived neurons and postmortem brain tissue

(2012) Yoichi Imaizumi et al.   Molecular Brain

Productive Hepatitis C Virus Infection of Stem Cell-Derived Hepatocytes Reveals a Critical Transition to Viral Permissiveness during Differentiation

(2012) Xianfang Wu et al.   PLoS Pathogens

Use of human hepatocyte-like cells derived from induced pluripotent stem cells as a model for hepatocytes in hepatitis C virus infection

(2011) Takeshi Yoshida et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

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

LRRK2 Mutant iPSC-Derived DA Neurons Demonstrate Increased Susceptibility to Oxidative Stress

(2011) Ha Nam Nguyen et al.   Cell Stem Cell

In vitro Modeling of Ryanodine Receptor 2 Dysfunction Using Human Induced Pluripotent Stem Cells

(2011) Azra Fatima et al.   CELLULAR PHYSIOLOGY AND BIOCHEMISTRY

Model for long QT syndrome type 2 using human iPS cells demonstrates arrhythmogenic characteristics in cell culture

(2011) A. L. Lahti et al.   Disease Models & Mechanisms

Dantrolene rescues arrhythmogenic RYR2 defect in a patient-specific stem cell model of catecholaminergic polymorphic ventricular tachycardia

(2011) Christian B. Jung et al.   EMBO Molecular Medicine

Drug evaluation in cardiomyocytes derived from human induced pluripotent stem cells carrying a long QT syndrome type 2 mutation

(2011) Elena Matsa et al.   EUROPEAN HEART JOURNAL

Modeling familial Alzheimer's disease with induced pluripotent stem cells

(2011) Takuya Yagi et al.   HUMAN MOLECULAR GENETICS

Human Pompe disease-induced pluripotent stem cells for pathogenesis modeling, drug testing and disease marker identification

(2011) Hsiang-Po Huang et al.   HUMAN MOLECULAR GENETICS

Rescue of ATP7B function in hepatocyte-like cells from Wilson's disease induced pluripotent stem cells using gene therapy or the chaperone drug curcumin

(2011) Shiqiang Zhang et al.   HUMAN MOLECULAR GENETICS

Isolation of MECP2-null Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation

(2011) Aaron Y.L. Cheung et al.   HUMAN MOLECULAR GENETICS

Cardiomyocytes generated from CPVTD307H patients are arrhythmogenic in response to β-adrenergic stimulation

(2011) Atara Novak et al.   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

Mitochondrial Parkin Recruitment Is Impaired in Neurons Derived from Mutant PINK1 Induced Pluripotent Stem Cells

(2011) P. Seibler et al.   JOURNAL OF NEUROSCIENCE

Chronic Inhibition of the Respiratory Chain in Human Fibroblast Cultures: Differential Responses Related to Subject Chronological and Biological Age

(2011) P. Dekker et al.   JOURNALS OF GERONTOLOGY SERIES A-BIOLOGICAL SCIENCES AND MEDICAL SCIENCES

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

(2011) Emi Aizawa et al.   MOLECULAR THERAPY

Targeted gene correction of α1-antitrypsin deficiency in induced pluripotent stem cells

(2011) Kosuke Yusa et al.   NATURE

Modelling schizophrenia using human induced pluripotent stem cells

(2011) Kristen J. Brennand et al.   NATURE

Somatic coding mutations in human induced pluripotent stem cells

(2011) Athurva Gore et al.   NATURE

Using induced pluripotent stem cells to investigate cardiac phenotypes in Timothy syndrome

(2011) Masayuki Yazawa et al.   NATURE

Modelling the long QT syndrome with induced pluripotent stem cells

(2011) Ilanit Itzhaki et al.   NATURE

Self-organizing optic-cup morphogenesis in three-dimensional culture

(2011) Mototsugu Eiraku et al.   NATURE

Genetic engineering of human pluripotent cells using TALE nucleases

(2011) Dirk Hockemeyer et al.   NATURE BIOTECHNOLOGY

Astrocytes from familial and sporadic ALS patients are toxic to motor neurons

(2011) Amanda M Haidet-Phillips et al.   NATURE BIOTECHNOLOGY

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

(2011) Sergiu P Paşca et al.   NATURE MEDICINE

Isogenic Pairs of Wild Type and Mutant Induced Pluripotent Stem Cell (iPSC) Lines from Rett Syndrome Patients as In Vitro Disease Model

(2011) Gene Ananiev et al.   PLoS One

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

SNCA Triplication Parkinson's Patient's iPSC-derived DA Neurons Accumulate α-Synuclein and Are Susceptible to Oxidative Stress

(2011) Blake Byers et al.   PLoS One

Rapid induction and long-term self-renewal of primitive neural precursors from human embryonic stem cells by small molecule inhibitors

(2011) W. Li et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Skeletogenic phenotype of human Marfan embryonic stem cells faithfully phenocopied by patient-specific induced-pluripotent stem cells

(2011) N. Quarto 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

A Targeted NKX2.1 Human Embryonic Stem Cell Reporter Line Enables Identification of Human Basal Forebrain Derivatives

(2011) Adam L. Goulburn et al.   STEM CELLS

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

(2011) Tammy Chang et al.   STEM CELLS

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

(2010) Hoseok Song et al.   Cell Stem Cell

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

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

Enhanced Striatal Dopamine Transmission and Motor Performance with LRRK2 Overexpression in Mice Is Eliminated by Familial Parkinson's Disease Mutation G2019S

(2010) X. Li et al.   JOURNAL OF NEUROSCIENCE

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 as Models for Aneuploid Chromosomal Syndromes

(2010) Juan-Carlos Biancotti et al.   STEM CELLS

Human-induced pluripotent stem cells from blood cells of healthy donors and patients with acquired blood disorders

(2009) Z. Ye et al.   BLOOD

Rapid flow cytometric method for measuring senescence associated β-galactosidase activity in human fibroblasts

(2009) Gerard Noppe et al.   CYTOMETRY PART A

Efficient targeting of expressed and silent genes in human ESCs and iPSCs using zinc-finger nucleases

(2009) Dirk Hockemeyer et al.   NATURE BIOTECHNOLOGY

A rosette-type, self-renewing human ES cell-derived neural stem cell with potential for in vitro instruction and synaptic integration

(2009) P. Koch et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Prediction of drug-induced cardiotoxicity using human embryonic stem cell-derived cardiomyocytes

(2009) Stefan R. Braam et al.   Stem Cell Research

A Targeted Neuroglial Reporter Line Generated by Homologous Recombination in Human Embryonic Stem Cells

(2009) Haipeng Xue et al.   STEM CELLS

Non-Cell-Autonomous Effect of Human SOD1G37R Astrocytes on Motor Neurons Derived from Human Embryonic Stem Cells

(2008) Maria C.N. Marchetto et al.   Cell Stem Cell

Human Embryonic Stem Cell-Derived Motor Neurons Are Sensitive to the Toxic Effect of Glial Cells Carrying an ALS-Causing Mutation

(2008) Francesco Paolo Di Giorgio et al.   Cell Stem Cell

Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study

(2008) Daniel G Healy et al.   LANCET NEUROLOGY

Induced pluripotent stem cells from a spinal muscular atrophy patient

(2008) Allison D. Ebert et al.   NATURE