Generation of an iPSC line from a patient with infantile liver failure syndrome 2 due to mutations in NBAS: DHMCi004-A
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 Reprogra...
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| Main Authors: | , , , , , , |
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| Format: | Article (Journal) |
| Language: | English |
| Published: |
11 February 2019
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| In: |
Stem cell research
Year: 2019, Volume: 35 |
| ISSN: | 1876-7753 |
| DOI: | 10.1016/j.scr.2019.101398 |
| Online Access: | Verlag, Volltext: https://doi.org/10.1016/j.scr.2019.101398 Verlag, Volltext: http://www.sciencedirect.com/science/article/pii/S1873506119300285 
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| Author Notes: | Dominic Lenz, Christian Staufner, Selina Wächter, Maike Hagedorn, Juliane Ebersold, Gudrun Göhring, Stefan Kölker, Georg F. Hoffmann, Sabine Jung-Klawitter |
| Summary: | 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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| Item Description: | Gesehen am 28.03.2019 |
| Physical Description: | Online Resource |
| ISSN: | 1876-7753 |
| DOI: | 10.1016/j.scr.2019.101398 |