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 SCA...

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Autores principales: Moore, Lauren R., Keller, Laura, Paulson, Henry L., Smith, Gary D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10020865/
https://www.ncbi.nlm.nih.gov/pubmed/35952620
http://dx.doi.org/10.1016/j.scr.2022.102873
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author Moore, Lauren R.
Keller, Laura
Paulson, Henry L.
Smith, Gary D.
author_facet Moore, Lauren R.
Keller, Laura
Paulson, Henry L.
Smith, Gary D.
author_sort Moore, Lauren R.
collection PubMed
description 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.
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spelling pubmed-100208652023-03-17 Derivation of spinocerebellar ataxia type 3 human embryonic stem cell line UMICHe001-A/UM134-1 Moore, Lauren R. Keller, Laura Paulson, Henry L. Smith, Gary D. Stem Cell Res Article 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. 2022-10 2022-07-26 /pmc/articles/PMC10020865/ /pubmed/35952620 http://dx.doi.org/10.1016/j.scr.2022.102873 Text en https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) ).
spellingShingle Article
Moore, Lauren R.
Keller, Laura
Paulson, Henry L.
Smith, Gary D.
Derivation of spinocerebellar ataxia type 3 human embryonic stem cell line UMICHe001-A/UM134-1
title Derivation of spinocerebellar ataxia type 3 human embryonic stem cell line UMICHe001-A/UM134-1
title_full Derivation of spinocerebellar ataxia type 3 human embryonic stem cell line UMICHe001-A/UM134-1
title_fullStr Derivation of spinocerebellar ataxia type 3 human embryonic stem cell line UMICHe001-A/UM134-1
title_full_unstemmed Derivation of spinocerebellar ataxia type 3 human embryonic stem cell line UMICHe001-A/UM134-1
title_short Derivation of spinocerebellar ataxia type 3 human embryonic stem cell line UMICHe001-A/UM134-1
title_sort derivation of spinocerebellar ataxia type 3 human embryonic stem cell line umiche001-a/um134-1
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10020865/
https://www.ncbi.nlm.nih.gov/pubmed/35952620
http://dx.doi.org/10.1016/j.scr.2022.102873
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