Related Experiment Video

Updated: May 7, 2026

Generation of Induced Pluripotent Stem Cells from Muscular Dystrophy Patients: Efficient Integration-free Reprogramming of Urine Derived Cells
09:11

Generation of Induced Pluripotent Stem Cells from Muscular Dystrophy Patients: Efficient Integration-free Reprogramming of Urine Derived Cells

Published on: January 28, 2015

Generation and characterization of two human induced pluripotent stem cell lines from patients with Danon disease

Matthieu Lejars1, Christelle Kabore1, Benjamin Marande1

  • 1Université Paris-Saclay, Université d'Evry, Inserm, IStem, UMR861, Corbeil-Essonnes, France; IStem, CECS, Corbeil-Essonnes, France.

Stem Cell Research
|February 19, 2026
PubMed

Insights

Researchers generated induced pluripotent stem cell (iPSC) lines from Danon disease (DD) patients. These validated iPSC lines offer a valuable model for studying DD mechanisms and testing new therapies.

Area of Science:

  • Genetics and Stem Cell Biology
  • Rare Genetic Diseases
  • Molecular Medicine

Background:

  • Danon disease (DD) is a rare X-linked dominant disorder.
  • It is caused by LAMP2 deficiency, leading to autophagic vacuolar myopathy.
  • Symptoms include cardiomyopathy, skeletal myopathy, and intellectual disability, with unclear underlying mechanisms.

Purpose of the Study:

  • To generate and validate induced pluripotent stem cell (iPSC) lines from Danon disease patients.
  • To establish a cellular model for investigating DD pathogenesis.
  • To facilitate the evaluation of potential therapeutic strategies for DD.

Main Methods:

  • Peripheral blood mononuclear cells were collected from DD patients.
  • Reprogramming into induced pluripotent stem cells (iPSCs) was performed.
  • Validation included pluripotency markers, genomic integrity, vector clearance, and trilineage differentiation.

Main Results:

  • Two distinct iPSC lines derived from DD patients were successfully generated.
  • These iPSC lines exhibited validated pluripotency and differentiation capabilities.
  • Genomic integrity and vector clearance were confirmed.

Conclusions:

  • The generated iPSC lines serve as a robust disease model for Danon disease.
  • These cellular models are crucial for understanding DD pathology.
  • They provide a platform for preclinical testing of novel therapeutic interventions for DD.

More Related Videos

Derivation and Characterization of a Transgene-free Human Induced Pluripotent Stem Cell Line and Conversion into Defined Clinical-grade Conditions10:48

Derivation and Characterization of a Transgene-free Human Induced Pluripotent Stem Cell Line and Conversion into Defined Clinical-grade Conditions

Published on: November 26, 2014

Automated Production of Human Induced Pluripotent Stem Cell-Derived Cortical and Dopaminergic Neurons with Integrated Live-Cell Monitoring09:34

Automated Production of Human Induced Pluripotent Stem Cell-Derived Cortical and Dopaminergic Neurons with Integrated Live-Cell Monitoring

Published on: August 6, 2020

Related Concept Videos

Induced Pluripotent Stem Cells01:13

Induced Pluripotent Stem Cells

Stem cells are undifferentiated cells that divide and produce different types of cells. Ordinarily, cells that have differentiated into a specific cell type are post-mitotic—that is, they no longer divide. However, scientists have found a way to reprogram these mature cells so that they “de-differentiate” and return to an unspecialized, proliferative state. These cells are also pluripotent like embryonic stem cells—able to produce all cell types—and are therefore called induced pluripotent stem...
Induced Pluripotent Stem Cells01:06

Induced Pluripotent Stem Cells

Stem cells are undifferentiated cells that divide and produce different cell types. Ordinarily, cells that have differentiated into a specific cell type are terminally differentiated; however, scientists have found a way to reprogram these mature cells so that they dedifferentiate and return to an unspecialized, proliferative state. These cells are pluripotent like embryonic stem cells—able to produce all cell types—and are called induced pluripotent stem cells (iPSCs).
Somatic cells are...
iPS Cell Differentiation01:22

iPS Cell Differentiation

The ability of induced pluripotent stem cells or iPSCs to differentiate into most body cell types has stimulated repair and regenerative medicine research over the past few decades. iPSC-derived blood cells, hepatocytes, beta islet cells, cardiomyocytes, neurons, and other cell types can repair injuries or regenerate damaged tissue in diseases such as diabetes and neurodegenerative disorders.
EPS and iPS Cells in Disease Research01:21

EPS and iPS Cells in Disease Research

Embryonic and induced pluripotent stem cells are excellent models for disease research because of their ability to self-renew and differentiate into most cell types. Somatic cells from a patient are isolated and reprogrammed into induced pluripotent stem cells or iPSCs. These iPSCs are later differentiated into the desired cell type, which mirrors the diseased cell of the patient. In this way, disease models have been created for investigating diseases such as Down syndrome, type I diabetes,...