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| Verfasst von: | Fluhr, Theresa [VerfasserIn]  |
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| | Tabatabaeifar, Mansoureh [VerfasserIn] |
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| | Syring, Hanna [VerfasserIn] |
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| | Göhring, Gudrun [VerfasserIn] |
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| | Schaefer, Franz [VerfasserIn] |
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| | Jung-Klawitter, Sabine [VerfasserIn] |
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| Titel: | Generation of an induced pluripotent stem cell line (DHMCi006-A) from a patient with autosomal recessive polycystic kidney disease (ARPKD) carrying a compound heterozygous missense mutation in the fibrocystin encoding PKHD1 gene |
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| Verf.angabe: | Theresa Leonie Fluhr, Mansoureh Tabatabaeifar, Hanna Syring, Gudrun Göhring, Franz Schaefer, Sabine Jung-Klawitter |
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| E-Jahr: | 2021 |
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| Jahr: | 18 October 2021 |
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| Umfang: | 5 S. |
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| Fussnoten: | Gesehen am 02.12.2021 |
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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: | 2021 |
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| Band/Heft Quelle: | 57(2021), Artikel-ID 102579, Seite 1-5 |
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| ISSN Quelle: | 1876-7753 |
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| Abstract: | Mutations in the PKHD1 gene, encoding for the ciliary protein fibrocystin, play a major role in the cystogenesis in autosomal recessive polycystic kidney disease (ARPKD), a severe pediatric kidney disorder. Peripheral blood mononuclear cells (PBMCs) from a female patient carrying a compound heterozygous PKHD1 mutation (c.6331A>G(;)7717C>T) were obtained and reprogrammed by viral transduction using the Cytotune®-iPS 2.0 Sendai Reprogramming Kit (Invitrogen). The resulting iPSCs display a normal karyotype, express pluripotency markers, and show the potential for spontaneous differentiation in vitro, offering a useful tool for studying ARPKD pathomechanisms and drug screening. |
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| DOI: | doi:10.1016/j.scr.2021.102579 |
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| URL: | Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt.
Volltext ; Verlag: https://doi.org/10.1016/j.scr.2021.102579 |
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| | Volltext: https://www.sciencedirect.com/science/article/pii/S1873506121004268 |
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| | DOI: https://doi.org/10.1016/j.scr.2021.102579 |
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| Datenträger: | Online-Ressource |
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| Sprache: | eng |
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| K10plus-PPN: | 1780197659 |
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| Verknüpfungen: | → Zeitschrift |
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Generation of an induced pluripotent stem cell line (DHMCi006-A) from a patient with autosomal recessive polycystic kidney disease (ARPKD) carrying a compound heterozygous missense mutation in the fibrocystin encoding PKHD1 gene / Fluhr, Theresa [VerfasserIn]; 18 October 2021 (Online-Ressource)
