Gain of 20q11.21 in human pluripotent stem cells enhances differentiation to retinal pigment epithelium.

ABSTRACT:

Background

Cell therapies based on human pluripotent stem cells (hPSCs) are in clinical trials with the aim of restoring vision in people with age-related macular degeneration. The final cell therapy product consists of retinal pigment epithelium (RPE) cells differentiated from hPSCs. However, hPSCs recurrently acquire genetic abnormalities that give them an advantage in culture with unknown effects to the clinically-relevant cell progeny. One of the most common genetic abnormalities in hPSCs is the sub-karyotype 20q11.21 copy number variant, known to carry oncogenes. Understanding the impact of this variant on RPE differentiation and its potential for malignant transformation is crucial for the development of safe and effective cell therapies.

Methods

We monitored the RPE d

SUBMITTER: Vitillo L 

PROVIDER: S-EPMC11846190 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature