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

Indri Erliandri; Agamjot Sangotra; Laura Keller; Andrew P. Lieberman; Gary D. Smith

Stem Cell Research (Dec 2024)

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

Indri Erliandri,
Agamjot Sangotra,
Laura Keller,
Andrew P. Lieberman,
Gary D. Smith

Affiliations

Indri Erliandri: Departments 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
Agamjot Sangotra: Department of Pathology, University of Michigan, Ann Arbor, MI, United States
Laura Keller: Departments 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
Andrew P. Lieberman: Department of Pathology, University of Michigan, Ann Arbor, MI, United States; Corresponding authors at: 4742F Medical Sciences II, 1301 E. Catherine Street, Ann Arbor, MI 48109, United States.
Gary D. Smith: Departments 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; Corresponding authors at: 4742F Medical Sciences II, 1301 E. Catherine Street, Ann Arbor, MI 48109, United States.

Journal volume & issue: Vol. 81
p. 103548

Abstract

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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.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

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