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Generation of a human induced pluripotent stem cell (iPSC) line from a patient carrying a P33T mutation in the PDX1 gene.
Stem Cell Res. 17, 273-276 (2016)
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Homozygous loss-of-function mutations in the gene coding for the homeobox transcription factor PDX1 leads to pancreatic agenesis, whereas certain heterozygous point mutations are associated with Maturity-Onset Diabetes of the Young 4 (MODY4) and Type 2 Diabetes Mellitus (T2DM). To understand the pathomechanism of MODY4 and T2DM, we have generated iPSCs from a woman with a P33T heterozygous mutation in the transactivation domain of PDX1. The resulting PDX1 P33T iPSCs generated by episomal reprogramming are integration-free, have a normal karyotype and are pluripotent in vitro and in vivo. Taken together, this iPSC line will be useful to study diabetes pathomechanisms.
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3.892
0.900
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Publication type
Article: Journal article
Document type
Scientific Article
Language
english
Publication Year
2016
HGF-reported in Year
2016
ISSN (print) / ISBN
1873-5061
e-ISSN
1876-7753
Journal
Stem Cell Research
Quellenangaben
Volume: 17,
Issue: 2,
Pages: 273-276
Publisher
Elsevier
Publishing Place
Amsterdam
Reviewing status
Peer reviewed
Institute(s)
Institute of Diabetes and Regeneration Research (IDR)
Institute of Diabetes Research and Metabolic Diseases (IDM)
Institute of Human Genetics (IHG)
Institute of Diabetes Research and Metabolic Diseases (IDM)
Institute of Human Genetics (IHG)
POF-Topic(s)
90000 - German Center for Diabetes Research
30201 - Metabolic Health
30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
30201 - Metabolic Health
30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
Research field(s)
Helmholtz Diabetes Center
Genetics and Epidemiology
Genetics and Epidemiology
PSP Element(s)
G-501900-232
G-502300-001
G-501900-231
G-502400-001
G-500700-001
G-502300-001
G-501900-231
G-502400-001
G-500700-001
PubMed ID
27879211
WOS ID
WOS:000389523200011
Scopus ID
85028038248
Erfassungsdatum
2016-12-31