Back to Search Start Over

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

Authors :
Philippe Froguel
Olivier Feraud
Noufissa Oudrhiri
Hélène Ezanno
Mathis Soubeyrand
Ali G. Turhan
Frank Griscelli
Annelise Bennaceur-Griscelli
Amélie Bonnefond
Source :
Stem Cell Research, Vol 29, Iss, Pp 56-59 (2018)
Publication Year :
2018
Publisher :
Elsevier BV, 2018.

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.

Details

ISSN :
18735061
Volume :
29
Database :
OpenAIRE
Journal :
Stem Cell Research
Accession number :
edsair.doi.dedup.....1255e14d99a221bdd29d2f4fd9c13eab