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| Verfasst von: | Lenz, Dominic [VerfasserIn]  |
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| | Staufner, Christian [VerfasserIn] |
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| | Wächter, Selina [VerfasserIn] |
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| | Göhring, Gudrun [VerfasserIn] |
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| | Kölker, Stefan [VerfasserIn] |
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| | Hoffmann, Georg Friedrich [VerfasserIn] |
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| | Jung-Klawitter, Sabine [VerfasserIn] |
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| Titel: | Generation of an iPSC line from a patient with infantile liver failure syndrome 2 due to mutations in NBAS |
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| Titelzusatz: | DHMCi004-A |
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| Verf.angabe: | Dominic Lenz, Christian Staufner, Selina Wächter, Maike Hagedorn, Juliane Ebersold, Gudrun Göhring, Stefan Kölker, Georg F. Hoffmann, Sabine Jung-Klawitter |
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| E-Jahr: | 2019 |
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| Jahr: | 11 February 2019 |
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| Umfang: | 4 S. |
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| Fussnoten: | Gesehen am 28.03.2019 |
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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: | 2019 |
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| Band/Heft Quelle: | 35(2019) Artikel-Nummer 101398, 4 Seiten |
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| ISSN Quelle: | 1876-7753 |
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| Abstract: | Fibroblasts of a patient with Infantile Liver Failure Syndrome 2 (OMIM #616483) due to a homozygous missense variant in the neuroblastoma amplified sequence gene (NBAS; c.[2708T>G]; c.[2708T>G]/p.[Leu903Arg]; p.[Leu903Arg]) were reprogrammed to iPSCs using the Cytotune®-iPS 2.0 Sendai Reprogramming Kit (Invitrogen) delivering the reprogramming factors Oct3/4, Sox2, c-Myc and Klf4. Cells showed a normal karyotype. Pluripotency of DHMCi004-A was proven using immunohistochemistry, RT-PCR analysis, flow cytometry and differentiation into all three germ layers using the STEMdiff™ Trilineage Differentiation Kit (Stemcell Technologies). DHMCi004-A represents the first iPS-based cell model system to elucidate the pathomechanism underlying this disease. |
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| DOI: | doi:10.1016/j.scr.2019.101398 |
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| URL: | Volltext ; Verlag: https://doi.org/10.1016/j.scr.2019.101398 |
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| | Volltext: http://www.sciencedirect.com/science/article/pii/S1873506119300285 |
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| | DOI: https://doi.org/10.1016/j.scr.2019.101398 |
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| Datenträger: | Online-Ressource |
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| Sprache: | eng |
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| K10plus-PPN: | 1662488041 |
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| Verknüpfungen: | → Zeitschrift |
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| Lokale URL UB: |  Zum Volltext |
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Generation of an iPSC line from a patient with infantile liver failure syndrome 2 due to mutations in NBAS / Lenz, Dominic [VerfasserIn]; 11 February 2019 (Online-Ressource)
