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