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
| Autor: | Philippe Froguel, Olivier Feraud, Noufissa Oudrhiri, Hélène Ezanno, Mathis Soubeyrand, Ali G. Turhan, Frank Griscelli, Annelise Bennaceur-Griscelli, Amélie Bonnefond |
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| Rok vydání: | 2018 |
| Předmět: |
Male
0301 basic medicine endocrine system Induced Pluripotent Stem Cells Alpha (ethology) Biology Maturity onset diabetes of the young 03 medical and health sciences Diabetes mellitus medicine Humans Hepatocyte Nuclear Factor 1-alpha Induced pluripotent stem cell lcsh:QH301-705.5 Gene Cell Biology General Medicine medicine.disease HNF1A Hepatocyte nuclear factors 030104 developmental biology lcsh:Biology (General) Diabetes Mellitus Type 2 Mutation Mutation (genetic algorithm) Cancer research Female Developmental Biology |
| Zdroj: | Stem Cell Research, Vol 29, Iss, Pp 56-59 (2018) |
| ISSN: | 1873-5061 |
| DOI: | 10.1016/j.scr.2018.02.017 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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