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.
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.
Stem cell research