Generation of two iPSC lines (FAMRCi007-A and FAMRCi007-B) from patient with Emery-Dreifuss muscular dystrophy and heart rhythm abnormalities carrying genetic variant LMNA p.Arg249Gln

Kseniya Perepelina; Aleksandra Kostina; Polina Klauzen; Aleksandr Khudiakov; Martina Rabino; Silvia Crasto; Anna Zlotina; Yulia Fomicheva; Alexey Sergushichev; Mari Oganesian; Alexander Dmitriev; Anna Kostareva; Elisa Di Pasquale; Anna Malashicheva

doi:10.1016/j.scr.2020.101895

Generation of two iPSC lines (FAMRCi007-A and FAMRCi007-B) from patient with Emery-Dreifuss muscular dystrophy and heart rhythm abnormalities carrying genetic variant LMNA p.Arg249Gln

Stem Cell Res. 2020 Jun 29:47:101895. doi: 10.1016/j.scr.2020.101895. Online ahead of print.

Authors

Affiliations

¹ Almazov National Medical Research Centre, Saint-Petersburg, Russia; Saint Petersburg State University, Saint-Petersburg, Russia; Institute of Cytology RAS, Saint-Petersburg, Russia.
² Institute of Cytology RAS, Saint-Petersburg, Russia.
³ Saint Petersburg State University, Saint-Petersburg, Russia; Institute of Cytology RAS, Saint-Petersburg, Russia.
⁴ Almazov National Medical Research Centre, Saint-Petersburg, Russia.
⁵ Humanitas Clinical and Research Center, Rozzano, (MI), Italy.
⁶ Almazov National Medical Research Centre, Saint-Petersburg, Russia; Saint Petersburg State University, Saint-Petersburg, Russia.
⁷ ITMO University, Saint-Petersburg, Russia.
⁸ Saint Petersburg State University, Saint-Petersburg, Russia; Federal State Budgetary Scientific Institution "Institute of Experimental Medicine", Saint-Petersburg, Russia.
⁹ Almazov National Medical Research Centre, Saint-Petersburg, Russia; Saint Petersburg State University, Saint-Petersburg, Russia; Department of Women's and Children's Health, Karolinska Institute, Stockholm, Sweden.
¹⁰ Humanitas Clinical and Research Center, Rozzano, (MI), Italy; Institute of Genetic and Biomedical Research (IRGB), UOS of Milan, National Research Council (CNR) of Italy, Italy. Electronic address: elisadipa@gmail.com.
¹¹ Almazov National Medical Research Centre, Saint-Petersburg, Russia; Saint Petersburg State University, Saint-Petersburg, Russia; Institute of Cytology RAS, Saint-Petersburg, Russia. Electronic address: amalashicheva@gmail.com.

PMID: 32659731
DOI: 10.1016/j.scr.2020.101895

Abstract

Human iPSC lines were generated from peripheral blood mononuclear cells of patient carrying LMNA mutation associated with Emery-Dreifuss muscular dystrophy accompanied by atrioventricular block and paroxysmal atrial fibrillation. Reprogramming factors OCT4, KLF4, SOX2, CMYC were delivered using Sendai virus transduction. iPSCs were characterized in order to prove the pluripotency markers expression, normal karyotype, ability to differentiate into three embryonic germ layers. Generated iPSC lines would be useful model to investigate disease development associated with genetic variants in LMNA gene.