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

Autor:	Panova AV; Endocrinology Research Centre, Moscow, Russia; Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow, Russia., Klementieva NV; Endocrinology Research Centre, Moscow, Russia. Electronic address: nvklementieva@gmail.com., Sycheva AV; Endocrinology Research Centre, Moscow, Russia., Goliusova DV; Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow, Russia., Khokhlov NV; Sechenov First Moscow State Medical University, Moscow, Russia., Zubkova NA; Endocrinology Research Centre, Moscow, Russia., Tiulpakov AN; Endocrinology Research Centre, Moscow, Russia., Kiselev SL; Endocrinology Research Centre, Moscow, Russia; Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow, Russia.
Jazyk:	angličtina
Zdroj:	Stem cell research [Stem Cell Res] 2020 Jul 25; Vol. 47, pp. 101929. Date of Electronic Publication: 2020 Jul 25.
DOI:	10.1016/j.scr.2020.101929
Abstrakt:	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. Competing Interests: Declaration of competing interests The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper. (Copyright © 2020 The Author(s). Published by Elsevier B.V. All rights reserved.)
Databáze:	MEDLINE
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