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


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. Copyright © 2022. Published by Elsevier B.V.

Authors Moore LR, Keller L, Paulson HL, Smith GD
Journal Stem cell research
Publication Date 2022 Jul 26;64:102873
PubMed 35952620
DOI 10.1016/j.scr.2022.102873

Research Projects

Cell Lines