Literature DB >> 29034897

Generation of iPSC line from desmin-related cardiomyopathy patient carrying splice site mutation of DES gene.

Aleksandr Khudiakov1, Daria Kostina2, Anna Zlotina2, Tatiana Nikulina2, Alexey Sergushichev3, Alexandra Gudkova2, Alexey Tomilin4, Anna Malashicheva5, Anna Kostareva6.   

Abstract

Human iPSC line was generated from patient-specific adipose tissue-derived mesenchymal multipotent stromal cells carrying desmin (DES) gene heterozygous splice site mutation using non-integrative reprogramming method. Reprogramming factors OCT4, KLF4, SOX2, CMYC were delivered using Sendai viruses. iPSCs were characterized by sequencing, karyotype analysis, STR analysis, immunocytochemistry, RT-PCR and teratoma formation.
Copyright © 2017 The Authors. Published by Elsevier B.V. All rights reserved.

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Year:  2017        PMID: 29034897     DOI: 10.1016/j.scr.2017.08.015

Source DB:  PubMed          Journal:  Stem Cell Res        ISSN: 1873-5061            Impact factor:   2.020


  2 in total

Review 1.  Molecular insights into cardiomyopathies associated with desmin (DES) mutations.

Authors:  Andreas Brodehl; Anna Gaertner-Rommel; Hendrik Milting
Journal:  Biophys Rev       Date:  2018-06-20

Review 2.  Human Induced Pluripotent Stem-Cell-Derived Cardiomyocytes as Models for Genetic Cardiomyopathies.

Authors:  Andreas Brodehl; Hans Ebbinghaus; Marcus-André Deutsch; Jan Gummert; Anna Gärtner; Sandra Ratnavadivel; Hendrik Milting
Journal:  Int J Mol Sci       Date:  2019-09-06       Impact factor: 5.923

  2 in total

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