Generation of an induced pluripotent stem cell (iPSC) line from a patient with maturity-onset diabetes of the young type 3 (MODY3) carrying a hepatocyte nuclear factor 1-alpha (HNF1A) mutation

Frank Griscelli,Hélène Ezanno,Mathis Soubeyrand,Olivier Feraud,Noufissa Oudrhiri,Amélie Bonnefond,Ali G Turhan,Philippe Froguel,Annelise Bennaceur-Griscelli

doi:10.1016/j.scr.2018.02.017

Generation of an induced pluripotent stem cell (iPSC) line from a patient with maturity-onset diabetes of the young type 3 (MODY3) carrying a hepatocyte nuclear factor 1-alpha (HNF1A) mutation

Frank Griscelli, Hélène Ezanno + Show 7 more

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https://doi.org/10.1016/j.scr.2018.02.017

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Journal: Stem Cell Research	Publication Date: Mar 7, 2018
Citations: 17	License type: cc-by-nc-nd

Affiliation: University of Paris-Saclay, Institut Polytechnique de Paris, Délégation Paris 5, Sorbonne Paris Cité, Université Paris Cité, Institut Gustave Roussy, Inserm, University of Paris-Sud, University of Lille, Pasteur Institute of Lille, French National Centre for Scientific Research, Assistance Publique – Hôpitaux de Paris, Imperial College London

#Maturity-onset Diabetes Of The Young Type #Hepatocyte Nuclear Factor 1-alpha + Show 8 more

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Abstract

Heterozygous non-synonymous (p.S142F) mutation in HNF1A leads to maturity-onset diabetes of the young (MODY) type 3, which is a subtype of dominant inherited young-onset non-autoimmune diabetes due to the defect of insulin secretion from pancreatic beta cells. We generated induced pluripotent stem cells (iPSCs) from a patient with HNF1A p.S142F mutation. Cells from this patient, which were reprogrammed by non-integrative viral transduction had normal karyotype, harboured the HNF1A p.S142F mutation, expressed pluripotency hallmarks.

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