| Autor: |
Frank Griscelli, Hélène Ezanno, Mathis Soubeyrand, Olivier Feraud, Noufissa Oudrhiri, Amélie Bonnefond, Ali G. Turhan, Philippe Froguel, Annelise Bennaceur-Griscelli |
| Jazyk: |
angličtina |
| Rok vydání: |
2018 |
| Předmět: |
|
| Zdroj: |
Stem Cell Research, Vol 29, Iss , Pp 56-59 (2018) |
| Druh dokumentu: |
article |
| 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: |
Directory of Open Access Journals |
| Externí odkaz: |
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