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

Induced Pluripotent Stem Cells01:13

Induced Pluripotent Stem Cells

28.2K
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...
28.2K
Induced Pluripotent Stem Cells01:06

Induced Pluripotent Stem Cells

5.7K
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...
5.7K
Embryonic Stem Cells00:58

Embryonic Stem Cells

32.7K
Embryonic stem (ES) cells are undifferentiated pluripotent cells, meaning they can produce any cell type in the body. This gives them tremendous potential in science and medicine since they can generate specific cell types for use in research or to replace body cells lost due to damage or disease.
32.7K
Embryonic Stem Cells00:57

Embryonic Stem Cells

5.3K
Embryonic stem (ES) cells were first discovered in mice in 1981 by Martin Evans. In 1998, James Thomson identified a method to isolate embryonic stem cells from humans. Human embryonic stem cells (hESCs) are obtained from 3-5 day old embryos that remain unused after an in vitro fertilization procedure.
ES cells are grown in a culture medium where they can divide indefinitely, creating ES cell lines. Under certain conditions, ES cells can differentiate, either spontaneously into a variety of...
5.3K
Adult Stem Cells01:33

Adult Stem Cells

33.9K
Stem cells are undifferentiated cells that divide and produce more stem cells or progenitor cells that differentiate into mature, specialized cell types. All the cells in the body are generated from stem cells in the early embryo, but small populations of stem cells are also present in many adult tissues including the bone marrow, brain, skin, and gut. These adult stem cells typically produce the various cell types found in that tissue—to replace cells that are damaged or to continuously...
33.9K
Induced-fit Model01:13

Induced-fit Model

89.7K
Most chemical reactions in cells require enzymes—biological catalysts that speed up the reaction without being consumed or permanently changed. They reduce the activation energy needed to convert the reactants into products. Enzymes are proteins, that usually work by binding to a substrate—a reactant molecule that they act upon.
Enzymes exhibit substrate specificity, meaning that they can only bind to certain substrates. This is mainly determined by the shape and chemical...
89.7K

You might also read

Related Articles

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

Sort by
Same author

First-time use of pathogen absorptive device in severe BK DNAemia/BK polyomavirus-associated nephropathy post kidney transplantation.

Pediatric nephrology (Berlin, Germany)·2026
Same author

Macrophage signaling and function are regulated by distinct sterol biochemistries.

Journal of lipid research·2026
Same author

MLC1 alteration in human iPSCs give rise to disease-like cellular vacuolation phenotype in the astrocyte lineage.

Orphanet journal of rare diseases·2026
Same author

Cholesterol Deficiency Directs Autophagy-Dependent Secretion of Extracellular Vesicles.

Journal of extracellular vesicles·2026
Same author

Compromised lipid metabolism, mitochondria respiration and neuroprotective effects in iPSC-derived astrocytes from a Smith-Lemli-Opitz syndrome patient.

Human molecular genetics·2025
Same author

Editorial: Studying rare diseases using induced pluripotent stem cell (iPSC)-based model systems.

Frontiers in cell and developmental biology·2025

Related Experiment Video

Updated: Feb 16, 2026

Transfecting and Nucleofecting Human Induced Pluripotent Stem Cells
10:24

Transfecting and Nucleofecting Human Induced Pluripotent Stem Cells

Published on: October 5, 2011

22.0K

Modeling rare diseases with induced pluripotent stem cell technology.

Ruthellen H Anderson1, Kevin R Francis2

  • 1Cellular Therapies and Stem Cell Biology Group, Sanford Research, Sioux Falls, SD, USA; Sanford School of Medicine, University of South Dakota, Sioux Falls, SD, USA.

Molecular and Cellular Probes
|January 9, 2018
PubMed
Summary

Cellular reprogramming creates patient-specific induced pluripotent stem cell models for rare diseases, advancing research and therapeutic development. This technology aids understanding disease mechanisms and discovering new treatments for rare genetic conditions.

Keywords:
CRISPRDisease modelingInduced pluripotentPluripotencyRare diseaseiPSC

More Related Videos

Generation of 3D Whole Lung Organoids from Induced Pluripotent Stem Cells for Modeling Lung Developmental Biology and Disease
09:45

Generation of 3D Whole Lung Organoids from Induced Pluripotent Stem Cells for Modeling Lung Developmental Biology and Disease

Published on: April 12, 2021

9.4K
Generation of 3D Skin Organoid from Cord Blood-derived Induced Pluripotent Stem Cells
09:54

Generation of 3D Skin Organoid from Cord Blood-derived Induced Pluripotent Stem Cells

Published on: April 18, 2019

14.6K

Related Experiment Videos

Last Updated: Feb 16, 2026

Transfecting and Nucleofecting Human Induced Pluripotent Stem Cells
10:24

Transfecting and Nucleofecting Human Induced Pluripotent Stem Cells

Published on: October 5, 2011

22.0K
Generation of 3D Whole Lung Organoids from Induced Pluripotent Stem Cells for Modeling Lung Developmental Biology and Disease
09:45

Generation of 3D Whole Lung Organoids from Induced Pluripotent Stem Cells for Modeling Lung Developmental Biology and Disease

Published on: April 12, 2021

9.4K
Generation of 3D Skin Organoid from Cord Blood-derived Induced Pluripotent Stem Cells
09:54

Generation of 3D Skin Organoid from Cord Blood-derived Induced Pluripotent Stem Cells

Published on: April 18, 2019

14.6K

Area of Science:

  • Stem cell biology
  • Genetics
  • Rare disease research

Background:

  • Rare diseases affect many people, presenting significant unmet medical needs.
  • Current treatment development is hindered by poorly understood disease mechanisms.
  • Cellular reprogramming offers a novel approach to studying rare diseases.

Purpose of the Study:

  • To review the use of induced pluripotent stem cells (iPSCs) in rare disease research.
  • To discuss the applications of iPSC technology in understanding disease pathogenesis.
  • To explore the integration of genome editing with iPSC models for therapeutic development.

Main Methods:

  • Reprogramming patient somatic cells into iPSCs.
  • Differentiating iPSCs into various cell types for analysis.
  • Utilizing patient-specific mutations within iPSC models.
  • Integrating genome editing techniques with iPSC technology.

Main Results:

  • iPSC models provide invaluable tools for studying rare diseases.
  • Developmental and functional analyses reveal disease mechanisms.
  • Patient-specific iPSCs carrying mutations are crucial for research.
  • Genome editing enhances the utility of iPSC models.

Conclusions:

  • Induced pluripotent stem cell technology has revolutionized rare disease research.
  • These models are essential for understanding disease pathogenesis.
  • Combining iPSCs with genome editing promises improved patient therapies for rare diseases.