Generation of an induced pluripotent stem cell (iPSC) line from a patient with maturity-onset diabetes of the young type 13 (MODY13) with a the potassium inwardly-rectifying channel, subfamily J, member 11 (KCNJ11) mutation

Frank Griscelli,Olivier Feraud,Tony Ernault,Noufissa Oudrihri,Ali G Turhan,Amélie Bonnefond,Philippe Froguel,Annelise Bennaceur-Griscelli

doi:10.1016/j.scr.2017.07.023

Generation of an induced pluripotent stem cell (iPSC) line from a patient with maturity-onset diabetes of the young type 13 (MODY13) with a the potassium inwardly-rectifying channel, subfamily J, member 11 (KCNJ11) mutation

Frank Griscelli, Olivier Feraud + Show 6 more

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https://doi.org/10.1016/j.scr.2017.07.023

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Journal: Stem Cell Research	Publication Date: Jul 25, 2017
Citations: 11	License type: cc-by-nc-nd

Affiliation: Imperial College London, Institut Gustave Roussy, Délégation Paris 5, Sorbonne Paris Cité, Université Paris Cité, University of Paris-Sud, Institut Polytechnique de Paris, Assistance Publique – Hôpitaux de Paris, University of Paris-Saclay

#Maturity-onset Diabetes Of The Young Type #Maturity-onset Diabetes Of The Young + Show 8 more

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Abstract

Heterozygous activating mutation (p.Glu227Lys) in KCNJ11 leads to maturity-onset diabetes of the young (MODY) type 13, that is a subtype of dominant inherited young-onset non-autoimmune diabetes due to a primary defect in pancreatic beta cells. We generated induced pluripotent stem cells (iPSCs) from a patient with KCNJ11p.Glu227Lys mutation who developed MODY at 13years old. KCNJ11p.Glu227Lys-mutated cells that were reprogrammed by non-integrative viral transduction had normal karyotype, harboured the KCNJ11p.Glu227Lys mutation, expressed pluripotency hallmarks and had the differentiation capacity into the three germ layers.

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