# A spinal and bulbar muscular atrophy (SBMA) disease-specific human embryonic stem cell (hESC) line, UMICHe002-A/UM197–1

## TL;DR

This paper introduces the first human embryonic stem cell line for studying SBMA, a neuromuscular disorder caused by a genetic mutation.

## Contribution

The first SBMA-specific human embryonic stem cell line, UM197–1, is established and registered with NIH.

## Key findings

- UM197–1 is a pluripotent stem cell line derived from an SBMA patient.
- The cell line can differentiate into three germ layers in vitro.
- It provides a new model for studying SBMA disease mechanisms.

## Abstract

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.