Generation of an induced pluripotent stem cell line MNDINSi001-A from a patient with neonatal diabetes caused by a heterozygous INS mutation

Alexandra V Panova; Natalia V Klementieva; Anna V Sycheva; Daria V Goliusova; Nikolay V Khokhlov; Natalia A Zubkova; Anatoly N Tiulpakov; Sergey L Kiselev

doi:10.1016/j.scr.2020.101929

Generation of an induced pluripotent stem cell line MNDINSi001-A from a patient with neonatal diabetes caused by a heterozygous INS mutation

Stem Cell Res. 2020 Jul 25:47:101929. doi: 10.1016/j.scr.2020.101929. Online ahead of print.

Authors

Alexandra V Panova¹, Natalia V Klementieva², Anna V Sycheva³, Daria V Goliusova⁴, Nikolay V Khokhlov⁵, Natalia A Zubkova³, Anatoly N Tiulpakov³, Sergey L Kiselev¹

Affiliations

¹ Endocrinology Research Centre, Moscow, Russia; Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow, Russia.
² Endocrinology Research Centre, Moscow, Russia. Electronic address: nvklementieva@gmail.com.
³ Endocrinology Research Centre, Moscow, Russia.
⁴ Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow, Russia.
⁵ Sechenov First Moscow State Medical University, Moscow, Russia.

PMID: 32739878
DOI: 10.1016/j.scr.2020.101929

Abstract

Insulin gene (INS) mutations prove to be the second most common cause of permanent neonatal diabetes. Here, we report the generation of iPSC line from a patient, heterozygous for the intronic INS mutation that presumably leads to aberrant splicing. Dermal fibroblasts were reprogrammed using non-integrating RNA-based vector. Derivation and expansion of iPSCs were performed under feeder-free culture conditions. The iPSC line expressed pluripotency markers, had normal karyotype, could differentiate into three germ layers in vitro and retained the disease mutation. This line can be a powerful tool for modeling of diabetes and cell replacement therapy as well.