Generation of an induced pluripotent stem cell line from a patient with spinocerebellar ataxia type 3 (SCA3): HIHCNi002-A
A skin biopsy of a patient with spinocerebellar ataxia type 3 (SCA3, also known as Machado-Joseph disease (MJD)) caused by a CAG trinucleotide repeat expansion in the ATXN3 gene, was used to generate an induced pluripotent stem cell line, HIHCNi002-A (iPSC-SCA3). Skin fibroblasts were reprogrammed u...
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doaj-abf89968d65f486d89c08f12dea60aa62020-11-24T23:59:51ZengElsevierStem Cell Research1873-50612018-07-0130171174Generation of an induced pluripotent stem cell line from a patient with spinocerebellar ataxia type 3 (SCA3): HIHCNi002-AStefanie Nicole Hayer0Yvonne Schelling1Jeannette Huebener-Schmid2Jonasz Jeremiasz Weber3Stefan Hauser4Ludger Schöls5Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research & Center of Neurology, University of Tübingen, Tübingen, Germany; German Research Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, GermanyGerman Research Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, GermanyInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, GermanyInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, GermanyDepartment of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research & Center of Neurology, University of Tübingen, Tübingen, Germany; German Research Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, GermanyDepartment of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research & Center of Neurology, University of Tübingen, Tübingen, Germany; German Research Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany; Corresponding author at: Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research & Center of Neurology, University of Tübingen, Hoppe-Seyler-Str. 3, 72076 Tübingen, Germany.A skin biopsy of a patient with spinocerebellar ataxia type 3 (SCA3, also known as Machado-Joseph disease (MJD)) caused by a CAG trinucleotide repeat expansion in the ATXN3 gene, was used to generate an induced pluripotent stem cell line, HIHCNi002-A (iPSC-SCA3). Skin fibroblasts were reprogrammed using episomal plasmids carrying hOCT4, hSOX2, hKLF4, hL-MYC, and hLIN28. The iPSC-SCA3 line exhibits chromosomal stability with conservation of the ATXN3 repeat expansion, expresses pluripotency markers and differentiates into endo-, meso-, and ectodermal cells in vitro.http://www.sciencedirect.com/science/article/pii/S1873506118301545 |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Stefanie Nicole Hayer Yvonne Schelling Jeannette Huebener-Schmid Jonasz Jeremiasz Weber Stefan Hauser Ludger Schöls |
spellingShingle |
Stefanie Nicole Hayer Yvonne Schelling Jeannette Huebener-Schmid Jonasz Jeremiasz Weber Stefan Hauser Ludger Schöls Generation of an induced pluripotent stem cell line from a patient with spinocerebellar ataxia type 3 (SCA3): HIHCNi002-A Stem Cell Research |
author_facet |
Stefanie Nicole Hayer Yvonne Schelling Jeannette Huebener-Schmid Jonasz Jeremiasz Weber Stefan Hauser Ludger Schöls |
author_sort |
Stefanie Nicole Hayer |
title |
Generation of an induced pluripotent stem cell line from a patient with spinocerebellar ataxia type 3 (SCA3): HIHCNi002-A |
title_short |
Generation of an induced pluripotent stem cell line from a patient with spinocerebellar ataxia type 3 (SCA3): HIHCNi002-A |
title_full |
Generation of an induced pluripotent stem cell line from a patient with spinocerebellar ataxia type 3 (SCA3): HIHCNi002-A |
title_fullStr |
Generation of an induced pluripotent stem cell line from a patient with spinocerebellar ataxia type 3 (SCA3): HIHCNi002-A |
title_full_unstemmed |
Generation of an induced pluripotent stem cell line from a patient with spinocerebellar ataxia type 3 (SCA3): HIHCNi002-A |
title_sort |
generation of an induced pluripotent stem cell line from a patient with spinocerebellar ataxia type 3 (sca3): hihcni002-a |
publisher |
Elsevier |
series |
Stem Cell Research |
issn |
1873-5061 |
publishDate |
2018-07-01 |
description |
A skin biopsy of a patient with spinocerebellar ataxia type 3 (SCA3, also known as Machado-Joseph disease (MJD)) caused by a CAG trinucleotide repeat expansion in the ATXN3 gene, was used to generate an induced pluripotent stem cell line, HIHCNi002-A (iPSC-SCA3). Skin fibroblasts were reprogrammed using episomal plasmids carrying hOCT4, hSOX2, hKLF4, hL-MYC, and hLIN28. The iPSC-SCA3 line exhibits chromosomal stability with conservation of the ATXN3 repeat expansion, expresses pluripotency markers and differentiates into endo-, meso-, and ectodermal cells in vitro. |
url |
http://www.sciencedirect.com/science/article/pii/S1873506118301545 |
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