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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Main Authors: Stefanie Nicole Hayer, Yvonne Schelling, Jeannette Huebener-Schmid, Jonasz Jeremiasz Weber, Stefan Hauser, Ludger Schöls
Format: Article
Language:English
Published: Elsevier 2018-07-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506118301545
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spelling 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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