Related Experiment Video

Updated: Jan 14, 2026

Generation of Retinal Organoids from Healthy and Retinal Disease-Specific Human-Induced Pluripotent Stem Cells
09:47

Generation of Retinal Organoids from Healthy and Retinal Disease-Specific Human-Induced Pluripotent Stem Cells

Published on: December 9, 2022

4.3K

Derivation of pluripotent stem cell lines (RFSCi005-A, RFSCi006-A) from siblings harboring identical high-risk

Naresh Rajendran1, Ajeet Singh2, Wendy Runyon3

  • 1Henderson Ocular Stem Cell Laboratory, Retina Foundation of the Southwest, Dallas, TX 75231, USA.

Stem Cell Research
|October 23, 2025
PubMed

Insights

Sibling iPSC lines reveal why identical high-risk genes cause varied age-related macular degeneration (AMD) severity. This research explores epigenetic, transcriptomic, and environmental factors influencing AMD, paving the way for personalized treatments.

Area of Science:

  • Ophthalmology
  • Genetics
  • Stem Cell Biology

Background:

  • Age-related macular degeneration (AMD) is a leading cause of vision loss.
  • Genetic factors, particularly complement factor H (CFH) gene variants, are strongly associated with AMD risk.
  • Significant variability in AMD disease severity exists even among individuals with identical high-risk genotypes, indicating the influence of other contributing factors.

Purpose of the Study:

  • To investigate the mechanisms underlying phenotypic heterogeneity in age-related macular degeneration (AMD) despite shared high-risk genetic profiles.
  • To utilize induced pluripotent stem cell (iPSC) technology for modeling AMD in a controlled, genetically relevant context.
  • To identify epigenetic, transcriptomic, and environmental contributors to variable AMD susceptibility.

Main Methods:

  • Generation of patient-derived induced pluripotent stem cell (iPSC) lines from siblings with discordant age-related macular degeneration (AMD) phenotypes but identical high-risk complement variants.
  • Differentiation of these iPSC lines into retinal cells for comparative analysis.
  • Assessment of epigenetic modifications, transcriptomic profiles, and responses to environmental stimuli in differentiated retinal cells.

Main Results:

  • The study established a unique iPSC platform from siblings with concordant genotypes but discordant AMD phenotypes.
  • Comparative analysis of differentiated retinal cells is underway to identify molecular differences.
  • Expected results will highlight key factors contributing to AMD heterogeneity.

Conclusions:

  • Induced pluripotent stem cells from genetically matched siblings offer a powerful model for dissecting AMD pathogenesis.
  • Understanding the interplay of genetic, epigenetic, and environmental factors is crucial for explaining AMD variability.
  • This research aims to inform the development of personalized therapeutic strategies for age-related macular degeneration.

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

8.2K
Chemical Reversion of Conventional Human Pluripotent Stem Cells to a Naïve-like State with Improved Multilineage Differentiation Potency09:07

Chemical Reversion of Conventional Human Pluripotent Stem Cells to a Naïve-like State with Improved Multilineage Differentiation Potency

Published on: June 10, 2018

10.6K

Related Concept Videos

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.
3.0K
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...
5.4K
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...
27.2K
Stem Cell Culture01:17

Stem Cell Culture

Stem cell research aims to find ways to use stem cells to regenerate and repair cellular damage. Over time, most adult cells undergo the wear and tear of aging and lose their ability to divide and repair themselves. Stem cells do not display a particular morphology or function. Adult stem cells, which exist as a small subset of cells in most tissues, keep dividing and can differentiate into a number of specialized cells generally formed by that tissue. These cells enable the body to renew and...
6.0K