An iPSC model for POLR3A-associated spastic ataxia: Generation of three unrelated patient cell lines
Spastic Ataxias (SA) are a group of neurodegenerative disorders with combined pyramidal and cerebellar system affection, leading to an overlap phenotype between Hereditary Spastic Paraplegias (HSP) and Cerebellar Ataxias (CA). Here we describe the generation of iPSCs from three unrelated patients wi...
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| Format: | Article |
| Language: | English |
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Elsevier
2024-04-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506124000618 |
| _version_ | 1827329794242510848 |
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| author | Kalaivani Manibarathi Tam Pham Holger Hengel Matthis Synofzik Maike Nagel Rebecca Schüle |
| author_facet | Kalaivani Manibarathi Tam Pham Holger Hengel Matthis Synofzik Maike Nagel Rebecca Schüle |
| author_sort | Kalaivani Manibarathi |
| collection | DOAJ |
| description | Spastic Ataxias (SA) are a group of neurodegenerative disorders with combined pyramidal and cerebellar system affection, leading to an overlap phenotype between Hereditary Spastic Paraplegias (HSP) and Cerebellar Ataxias (CA). Here we describe the generation of iPSCs from three unrelated patients with an ultra-rare subtype of SA caused by compound heterozygous mutations in POLR3A, that encodes the largest subunit of RNA polymerase III. iPSCs were reprogrammed from normal human dermal fibroblasts (NHDFs) using episomal reprogramming with integration-free plasmid vectors: HIHRSi004-A, derived from a 44 year-old male carrying the mutations c.1909 + 22G > A/c.3944_3945delTG, HIHRSi005-A obtained from a 66 year-old male carrying the mutations c.1909 + 22G > A/c.1531C > T, and HIHRSi006-A from a 27 year-old male carrying the mutations c.1909 + 22G > A/c.2472_2472delC (ENST00000372371.8). |
| first_indexed | 2024-03-07T15:46:17Z |
| format | Article |
| id | doaj.art-35164e496c7f48dfb74c6ff09bbca69a |
| institution | Directory Open Access Journal |
| issn | 1873-5061 |
| language | English |
| last_indexed | 2024-03-07T15:46:17Z |
| publishDate | 2024-04-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-35164e496c7f48dfb74c6ff09bbca69a2024-03-05T04:29:41ZengElsevierStem Cell Research1873-50612024-04-0176103363An iPSC model for POLR3A-associated spastic ataxia: Generation of three unrelated patient cell linesKalaivani Manibarathi0Tam Pham1Holger Hengel2Matthis Synofzik3Maike Nagel4Rebecca Schüle5Division of Neurodegenerative Diseases, Department of Neurology, Heidelberg University Hospital and Faculty of Medicine, Heidelberg, Germany; Center for Neurology and Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany; Graduate School of Cellular and Molecular Neuroscience, University of Tübingen, Tübingen, Germany; Faculty of Biosciences, University of Heidelberg, Heidelberg, Germany; Interdisciplinary Center for Neurosciences (IZN), Heidelberg, GermanyCenter for Neurology and Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany; Interfaculty Institute of Biochemistry (IFIB), Tübingen, GermanyCenter for Neurology and Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen, GermanyCenter for Neurology and Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen, GermanyCenter for Neurology and Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany; Graduate School of Cellular and Molecular Neuroscience, University of Tübingen, Tübingen, GermanyDivision of Neurodegenerative Diseases, Department of Neurology, Heidelberg University Hospital and Faculty of Medicine, Heidelberg, Germany; Center for Neurology and Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany; Corresponding author at: Division of Neurodegenerative Diseases, Department of Neurology, Heidelberg University Hospital and Faculty of Medicine, Heidelberg 69120, Germany.Spastic Ataxias (SA) are a group of neurodegenerative disorders with combined pyramidal and cerebellar system affection, leading to an overlap phenotype between Hereditary Spastic Paraplegias (HSP) and Cerebellar Ataxias (CA). Here we describe the generation of iPSCs from three unrelated patients with an ultra-rare subtype of SA caused by compound heterozygous mutations in POLR3A, that encodes the largest subunit of RNA polymerase III. iPSCs were reprogrammed from normal human dermal fibroblasts (NHDFs) using episomal reprogramming with integration-free plasmid vectors: HIHRSi004-A, derived from a 44 year-old male carrying the mutations c.1909 + 22G > A/c.3944_3945delTG, HIHRSi005-A obtained from a 66 year-old male carrying the mutations c.1909 + 22G > A/c.1531C > T, and HIHRSi006-A from a 27 year-old male carrying the mutations c.1909 + 22G > A/c.2472_2472delC (ENST00000372371.8).http://www.sciencedirect.com/science/article/pii/S1873506124000618 |
| spellingShingle | Kalaivani Manibarathi Tam Pham Holger Hengel Matthis Synofzik Maike Nagel Rebecca Schüle An iPSC model for POLR3A-associated spastic ataxia: Generation of three unrelated patient cell lines Stem Cell Research |
| title | An iPSC model for POLR3A-associated spastic ataxia: Generation of three unrelated patient cell lines |
| title_full | An iPSC model for POLR3A-associated spastic ataxia: Generation of three unrelated patient cell lines |
| title_fullStr | An iPSC model for POLR3A-associated spastic ataxia: Generation of three unrelated patient cell lines |
| title_full_unstemmed | An iPSC model for POLR3A-associated spastic ataxia: Generation of three unrelated patient cell lines |
| title_short | An iPSC model for POLR3A-associated spastic ataxia: Generation of three unrelated patient cell lines |
| title_sort | ipsc model for polr3a associated spastic ataxia generation of three unrelated patient cell lines |
| url | http://www.sciencedirect.com/science/article/pii/S1873506124000618 |
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