Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2024 Dec:81:103548.
doi: 10.1016/j.scr.2024.103548. Epub 2024 Sep 7.

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

Indri Erliandri  1 , Agamjot Sangotra  2 , Laura Keller  1 , Andrew P Lieberman  3 , Gary D Smith  4
Affiliations

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

Indri Erliandri et al. Stem Cell Res. 2024 Dec.

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.

PubMed Disclaimer

Conflict of interest statement

Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.

Figures

Fig. 1.
Fig. 1.
See this image and copyright information in PMC

References

    1. Lieberman AP, Harmison G, Strand AD, Olson JM, Fischbeck KH, 2002. Altered transcriptional regulation in cells expressing the expanded polyglutamine androgen receptor. Hum. Mol. Genet. 11, 1967–1976. 10.1093/hmg/11.17.1967. - DOI - PubMed
    1. Moore LR, Keller L, Paulson HL, Smith G, D., 2022. Derivation of spinocerebellar ataxia type 3 human embryonic stem cell line UMICHe001-A/UM134–1. Stem Cell. Res. 64, 102873. 10.1016/j.scr.2022.102873. - DOI - PMC - PubMed

Publication types

MeSH terms

LinkOut - more resources