Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

EPS and iPS Cells in Disease Research01:21

EPS and iPS Cells in Disease Research

2.7K
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,...
2.7K
Induced Pluripotent Stem Cells01:13

Induced Pluripotent Stem Cells

21.7K
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...
21.7K

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Mice with Sox5 inactivation in the Emx1 lineage as a model for the human Lamb-Shaffer neurodevelopmental syndrome.

Brain research·2026
Same author

Cultivation to consumption: strengthening bacterial safety in plant-based nutraceuticals.

Frontiers in microbiology·2026
Same author

Correction: An Anti-β-Amyloid vaccine for treating cognitive deficits in a mouse model of down syndrome.

PloS one·2025
Same author

Clinico-radiological findings of men 2A syndrome and its genetic correlation: A case report with review of literature.

Radiology case reports·2025
Same author

Epigenetic modifier alpha-ketoglutarate modulates aberrant gene body methylation and hydroxymethylation marks in diabetic heart.

Epigenetics & chromatin·2023
Same author

Editorial: Down syndrome: Genetic and epigenetic influences on this multi-faceted condition.

Frontiers in genetics·2023

Related Experiment Video

Updated: May 20, 2025

In Vitro Modeling of Down Syndrome Neurogenesis Using Human-Induced Pluripotent Stem Cells
06:38

In Vitro Modeling of Down Syndrome Neurogenesis Using Human-Induced Pluripotent Stem Cells

Published on: March 7, 2025

287

In Vitro Modeling of Down Syndrome Neurogenesis Using Human-Induced Pluripotent Stem Cells.

Vishi Sharma1, Harish Chhawari2, Pournima Joshi2

  • 1Stem Cell and Neurobiology Lab, National Centre for Cell Science, S.P. Pune University Complex.

Journal of Visualized Experiments : Jove
|March 24, 2025
PubMed
Summary

Down syndrome (DS) impairs neurogenesis due to biphasic cell cycle defects in neural progenitor cells (NPCs), leading to intellectual disability. This study details a protocol using patient-derived stem cells to model and understand these neurodevelopmental issues.

More Related Videos

Generation of Induced Pluripotent Stem Cells from Turner Syndrome 45XO Fetal Cells for Downstream Modelling of Neurological Deficits Associated with the Syndrome
09:39

Generation of Induced Pluripotent Stem Cells from Turner Syndrome 45XO Fetal Cells for Downstream Modelling of Neurological Deficits Associated with the Syndrome

Published on: December 4, 2021

3.0K
Generation of Neural Stem Cells from Discarded Human Fetal Cortical Tissue
07:29

Generation of Neural Stem Cells from Discarded Human Fetal Cortical Tissue

Published on: May 25, 2011

15.4K

Related Experiment Videos

Last Updated: May 20, 2025

In Vitro Modeling of Down Syndrome Neurogenesis Using Human-Induced Pluripotent Stem Cells
06:38

In Vitro Modeling of Down Syndrome Neurogenesis Using Human-Induced Pluripotent Stem Cells

Published on: March 7, 2025

287
Generation of Induced Pluripotent Stem Cells from Turner Syndrome 45XO Fetal Cells for Downstream Modelling of Neurological Deficits Associated with the Syndrome
09:39

Generation of Induced Pluripotent Stem Cells from Turner Syndrome 45XO Fetal Cells for Downstream Modelling of Neurological Deficits Associated with the Syndrome

Published on: December 4, 2021

3.0K
Generation of Neural Stem Cells from Discarded Human Fetal Cortical Tissue
07:29

Generation of Neural Stem Cells from Discarded Human Fetal Cortical Tissue

Published on: May 25, 2011

15.4K

Area of Science:

  • Neuroscience
  • Developmental Biology
  • Genetics

Background:

  • Down syndrome (DS), caused by trisomy 21, is the most common genetic cause of intellectual disability.
  • Impaired neurogenesis during fetal development is a key factor contributing to cognitive deficits in DS.
  • Human-induced pluripotent stem cells (hiPSCs) from DS patients offer a valuable model for studying neurodevelopmental abnormalities.

Purpose of the Study:

  • To describe a comprehensive protocol for recapitulating Down syndrome-impaired neurogenesis during fetal stages.
  • To investigate the cellular mechanisms underlying neurodevelopmental abnormalities in DS using isogenic hiPSC models.
  • To provide a robust experimental system for exploring brain development alterations in trisomy 21.

Main Methods:

  • Generation and maintenance of Down syndrome (DS)-hiPSCs (three copies of chromosome 21) and isogenic euploid hiPSCs (two copies of chromosome 21).
  • Differentiation of hiPSCs into neural lineages to model neurogenesis.
  • Analysis of neural progenitor cell (NPC) proliferation and cell cycle dynamics during neurogenic stages.
  • Validation of reduced neuronal differentiation in DS-derived neural cells.

Main Results:

  • The protocol successfully recapitulates DS-impaired neurogenesis.
  • A biphasic cell cycle defect in DS NPCs was identified: reduced proliferation early, followed by increased proliferation late in the neurogenic stage.
  • Increased late-phase proliferation leads to delayed cell cycle exit and reduced generation of post-mitotic neurons.

Conclusions:

  • Biphasic cell cycle defects in neural progenitor cells are a primary cause of impaired neurogenesis in Down syndrome.
  • The described protocol provides a reliable method for studying DS neurodevelopmental defects in vitro.
  • This model system facilitates research into trisomy 21-associated brain alterations and potential therapeutic targets.