Article
Generation of an induced pluripotent stem cell (iPSC) line from a patient with maturity-onset diabetes of the young type 13 (MODY13) with a the potassium inwardly-rectifying channel, subfamily J, member 11 (KCNJ11) mutation.
Stem cell research - 1 Aug 2017
Griscelli Frank, Feraud Olivier, Ernault Tony, Oudrihri Noufissa, Turhan Ali G, Bonnefond Amélie, Froguel Philippe, Bennaceur-Griscelli Annelise
Abstract excerpt
Heterozygous activating mutation (p.Glu227Lys) in KCNJ11 leads to maturity-onset diabetes of the young (MODY) type 13, that is a subtype of dominant inherited young-onset non-autoimmune diabetes due to a primary defect in pancreatic beta cells. We generated induced pluripotent stem cells (iPSCs) from a patient with KCNJ11p.Glu227Lys mutation who developed MODY at 13years old. KCNJ11p.Glu227Lys-mutated cells that...
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