| Literature DB >> 32739878 |
Alexandra V Panova1, Natalia V Klementieva2, Anna V Sycheva3, Daria V Goliusova4, Nikolay V Khokhlov5, Natalia A Zubkova3, Anatoly N Tiulpakov3, Sergey L Kiselev1.
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.Entities:
Year: 2020 PMID: 32739878 DOI: 10.1016/j.scr.2020.101929
Source DB: PubMed Journal: Stem Cell Res ISSN: 1873-5061 Impact factor: 2.020