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

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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.

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Khudiakov, A., Kostina, D., Zlotina, A., Nikulina, T., Sergushichev, A., Gudkova, A., … Kostareva, A. (2017). Generation of iPSC line from desmin-related cardiomyopathy patient carrying splice site mutation of DES gene. Stem Cell Research, 24, 77–80. https://doi.org/10.1016/j.scr.2017.08.015

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