A spinal and bulbar muscular atrophy (SBMA) disease-specific human embryonic stem cell (hESC) line, UMICHe002-A/UM197-1
Summary
Spinal and Bulbar Muscular Atrophy (SBMA) is an X-linked degenerative disorder of the neuromuscular system that is caused by an expanded CAG/polyglutamine (polyQ) tract within the Androgen Receptor (AR) gene. This mutation causes progressive muscle weakness and atrophy in men. Here, we report the establishment of the first SBMA disease-specific human embryonic stem cell (hESC) line in the NIH hESC registry, UM197-1. UM197-1 exhibits pluripotency, the ability to differentiate into three germ layers in vitro, and provides a new cellular model system to study SBMA disease pathogenesis. Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Erliandri I, Sangotra A, Keller L, Lieberman AP, Smith GD |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2024 Dec;81:103548 |
| PubMed | 39353357 |
| DOI | 10.1016/j.scr.2024.103548 |