Derivation of spinocerebellar ataxia type 3 human embryonic stem cell line UMICHe001-A/UM134-1

Lauren R Moore; Laura Keller; Henry L Paulson; Gary D Smith

doi:10.1016/j.scr.2022.102873

Derivation of spinocerebellar ataxia type 3 human embryonic stem cell line UMICHe001-A/UM134-1

Stem Cell Res. 2022 Oct:64:102873. doi: 10.1016/j.scr.2022.102873. Epub 2022 Jul 26.

Authors

Lauren R Moore¹, Laura Keller², Henry L Paulson³, Gary D Smith⁴

Affiliations

¹ Department of Neurology, 109 Zina Pitcher Place, University of Michigan, Ann Arbor, MI 48109, United States; Neuroscience Graduate Program, University of Michigan, Ann Arbor, MI 48109, United States.
² MStem Cell Laboratories, University of Michigan, Ann Arbor, MI 48109, United States.
³ Department of Neurology, 109 Zina Pitcher Place, University of Michigan, Ann Arbor, MI 48109, United States.
⁴ MStem Cell Laboratories, University of Michigan, Ann Arbor, MI 48109, United States; Departments of Ob/Gyn, Physiology, Urology, University of Michigan, Ann Arbor, MI 48109, United States.

Abstract

The most common autosomal dominant ataxia worldwide, spinocerebellar ataxia type 3 (SCA3) is a fatal, progressive neurodegenerative disorder caused by a CAG trinucleotide repeat expansion in the ATXN3 gene. Here we report the generation of human embryonic stem cell (hESC) line UM134-1, the first SCA3 disease-specific hESC line to be added to the NIH hESC registry. UM134-1 pluripotency was confirmed by immunocytochemistry and PCR for pluripotency markers and by the ability to form three germ layers in vitro. The established hESC line provides a useful new human cell model to study the pathogenesis of SCA3.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Ataxin-3 / genetics
Cell Line
Human Embryonic Stem Cells* / metabolism
Humans
Machado-Joseph Disease* / pathology
Trinucleotide Repeat Expansion

Substances

Ataxin-3

Grants and funding

R35 NS122302/NS/NINDS NIH HHS/United States