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

•Induced pluripotent stem cell line from patient with neonatal diabetes is generated.•The cells carry a heterozygous intronic mutation in the insulin gene.•This line can be modified by genome editing and used for pancreatic differentiation.•Modeling of diabetes and cell replacement therapy are the p...

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Veröffentlicht in:Stem cell research 2020-08, Vol.47, p.101929-101929, Article 101929
Hauptverfasser: Panova, Alexandra V., Klementieva, Natalia V., Sycheva, Anna V., Goliusova, Daria V., Khokhlov, Nikolay V., Zubkova, Natalia A., Tiulpakov, Anatoly N., Kiselev, Sergey L.
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Sprache:eng
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Zusammenfassung:•Induced pluripotent stem cell line from patient with neonatal diabetes is generated.•The cells carry a heterozygous intronic mutation in the insulin gene.•This line can be modified by genome editing and used for pancreatic differentiation.•Modeling of diabetes and cell replacement therapy are the potential applications. 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.
ISSN:1873-5061
1876-7753
DOI:10.1016/j.scr.2020.101929