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
Summary
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. Copyright © 2018 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Griscelli F, Ezanno H, Soubeyrand M, Feraud O, Oudrhiri N, Bonnefond A, Turhan AG, Froguel P, Bennaceur-Griscelli A |
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| Journal | Stem cell research |
| Publication Date | 2018 May;29:56-59 |
| PubMed | 29597128 |
| DOI | 10.1016/j.scr.2018.02.017 |