A spinal and bulbar muscular atrophy (SBMA) disease-specific human embryonic stem cell (hESC) line, UMICHe002-A/UM197-1
Related Experiment Video
Updated: Jun 11, 2025
Conversion of Human Induced Pluripotent Stem Cells iPSCs into Functional Spinal and Cranial Motor Neurons Using PiggyBac Vectors
Published on: May 1, 2019
Indri Erliandri1, Agamjot Sangotra2, Laura Keller1
1Departments of Obstetrics and Gynecology, Physiology, and Urology, University of Michigan, Ann Arbor, MI, United States; MStem Cell Laboratories, University of Michigan, Ann Arbor, MI, United States.
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.
More Related Videos
06:01In vitro Neuromuscular Junction Induced from Human Induced Pluripotent Stem Cells
Published on: December 3, 2020
09:11Generation of Induced Pluripotent Stem Cells from Muscular Dystrophy Patients: Efficient Integration-free Reprogramming of Urine Derived Cells
Published on: January 28, 2015
