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.

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  • Additional Information
    • Source:
      Publisher: Elsevier Country of Publication: England NLM ID: 101316957 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1876-7753 (Electronic) Linking ISSN: 18735061 NLM ISO Abbreviation: Stem Cell Res Subsets: MEDLINE
    • Publication Information:
      Original Publication: Kidlington, Oxford : Elsevier
    • Subject Terms:
      Diabetes Mellitus, Type 2/*complications ; Hepatocyte Nuclear Factor 1-alpha/*metabolism ; Induced Pluripotent Stem Cells/*metabolism; Diabetes Mellitus, Type 2/pathology ; Female ; Humans ; Male ; Mutation
    • 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.
      (Copyright © 2018 The Author(s). Published by Elsevier B.V. All rights reserved.)
    • Grant Information:
      294785 International ERC_ European Research Council
    • Accession Number:
      0 (Hepatocyte Nuclear Factor 1-alpha)
    • Subject Terms:
      Maturity-Onset Diabetes of the Young, Type 3
    • Publication Date:
      Date Created: 20180330 Date Completed: 20190322 Latest Revision: 20210924
    • Publication Date:
      20240829
    • Accession Number:
      10.1016/j.scr.2018.02.017
    • Accession Number:
      29597128