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| Verfasst von: | Schröter, Julian [VerfasserIn]  |
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| | Syring, Hanna [VerfasserIn] |
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| | Göhring, Gudrun [VerfasserIn] |
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| | Kölker, Stefan [VerfasserIn] |
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| | Opladen, Thomas [VerfasserIn] |
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| | Hoffmann, Georg F. [VerfasserIn] |
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| | Syrbe, Steffen [VerfasserIn] |
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| | Jung-Klawitter, Sabine [VerfasserIn] |
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| Titel: | Generation of an induced pluripotent stem cell line (DHMCi009-A) from an individual with TUBB2A tubulinopathy |
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| Verf.angabe: | Julian Schröter, Hanna Syring, Gudrun Göhring, Stefan Kölker, Thomas Opladen, Georg F. Hoffmann, Steffen Syrbe, Sabine Jung-Klawitter |
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| Jahr: | 2022 |
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| Umfang: | 5 S. |
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| Fussnoten: | Gesehen am 27.07.2023 |
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| Titel Quelle: | Enthalten in: Stem cell research |
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| Ort Quelle: | Amsterdam [u.a.] : Elsevier, 2007 |
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| Jahr Quelle: | 2022 |
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| Band/Heft Quelle: | 64(2022) vom: Okt., Artikel-ID 102879, Seite 1-5 |
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| ISSN Quelle: | 1876-7753 |
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| Abstract: | TUBB2A tubulinopathy is a rare neurodevelopmental disorder with developmental delay, epilepsy, and less frequent malformations of cortical development compared to other tubulinopathies. Peripheral blood mononuclear cells (PBMCs) from a male subject harboring the heterozygous de novo TUBB2A variant c.[743C>T] (p.[Ala248Val]) were reprogrammed to induced pluripotent stem cells (iPSCs) using the CytoTune™-iPS 2.0 Sendai Reprogramming Kit (Invitrogen). Generated iPSCs showed a normal karyotype, expression of pluripotency markers, spontaneous in vitro differentiation in all three germ layers, and are a suitable human disease model to analyze pathomechanisms underlying TUBB2A tubulinopathy and potential therapeutic targets. |
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| DOI: | doi:10.1016/j.scr.2022.102879 |
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| URL: | Volltext: https://doi.org/10.1016/j.scr.2022.102879 |
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| | Volltext: https://www.sciencedirect.com/science/article/pii/S1873506122002288 |
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| | DOI: https://doi.org/10.1016/j.scr.2022.102879 |
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| Datenträger: | Online-Ressource |
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| Sprache: | eng |
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| Sach-SW: | TUBB2A |
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| | Tubulinopathy |
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| K10plus-PPN: | 1853779288 |
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| Verknüpfungen: | → Zeitschrift |
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| Lokale URL UB: |  Zum Volltext |
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Generation of an induced pluripotent stem cell line (DHMCi009-A) from an individual with TUBB2A tubulinopathy / Schröter, Julian [VerfasserIn]; 2022 (Online-Ressource)
