Generation of an induced pluripotent stem cell line ERCi003-A derived from a patient with maturity-onset diabetes of the young type 10 caused by a heterozygous INS mutation

Abstract

Maturity-onset diabetes of the young type 10 (MODY10) is inherited in an autosomal dominant manner, characterized by islet cell dysfunction, impaired insulin synthesis and secretion. MODY10 is relatively rare, and is caused by a mutation of the 11p15.5 site on chromosome 11 encoding insulin. We obtained iPSCs (ERCi003-A line) from dermal fibroblasts derived from a patient with MODY10 carrying a previously undescribed pathogenic heterozygous mutation in the INS gene (c.93C>G, p.C31W) into iPSCs using transfection with self-replicating RNA vector. iPSCs proliferate in dense monolayer cell colonies, have a normal karyotype (46,XY), express pluripotency markers (OCT4, SOX2, TRA-1-60). The functional pluripotency of iPSCs was confirmed by their ability to form embryoid bodies and differentiate into the three germ layers (ecto-, endo-, and mesoderm). Sanger sequencing of iPSCs confirmed the presence of pathogenic heterozygous mutation in the INS gene. This cell line could be useful to thoroughly modeling of MODY10 to improve clinical understanding of the disease.