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

[摘要] 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.

[学科分类] 生理学