Literature DB >> 32739878

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

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.
Copyright © 2020 The Author(s). Published by Elsevier B.V. All rights reserved.

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


  3 in total

1.  Genetic Etiology of Neonatal Diabetes Mellitus in Vietnamese Infants and Characteristics of Those With INS Gene Mutations.

Authors:  Can Thi Bich Ngoc; Vu Chi Dung; Elisa De Franco; Nguyen Ngoc Lan; Bui Phuong Thao; Nguyen Ngoc Khanh; Sarah E Flanagan; Maria E Craig; Nguyen Huy Hoang; Tran Minh Dien
Journal:  Front Endocrinol (Lausanne)       Date:  2022-04-19       Impact factor: 6.055

2.  Aberrant Splicing of INS Impairs Beta-Cell Differentiation and Proliferation by ER Stress in the Isogenic iPSC Model of Neonatal Diabetes.

Authors:  Alexandra V Panova; Natalia V Klementieva; Anna V Sycheva; Elena V Korobko; Anastasia O Sosnovtseva; Tatiana S Krasnova; Maria R Karpova; Petr M Rubtsov; Yulia V Tikhonovich; Anatoly N Tiulpakov; Sergey L Kiselev
Journal:  Int J Mol Sci       Date:  2022-08-08       Impact factor: 6.208

Review 3.  Human Pluripotent Stem Cells Go Diabetic: A Glimpse on Monogenic Variants.

Authors:  Sandra Heller; Michael Karl Melzer; Ninel Azoitei; Cécile Julier; Alexander Kleger
Journal:  Front Endocrinol (Lausanne)       Date:  2021-05-17       Impact factor: 5.555

  3 in total

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