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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: Lenz, Dominic (Author) , Staufner, Christian (Author) , Wächter, Selina (Author) , Göhring, Gudrun (Author) , Kölker, Stefan (Author) , Hoffmann, Georg F. (Author) , Jung-Klawitter, Sabine (Author)
Format: Article (Journal)
Language:English
Published: 11 February 2019
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

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520 |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 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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