Back to Search Start Over

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

Authors :
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
Source :
Stem Cell Research, Vol 47, Iss , Pp 101895- (2020)
Publication Year :
2020
Publisher :
Elsevier, 2020.

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.

Subjects

Subjects :
Biology (General)
QH301-705.5

Details

Language :
English
ISSN :
18735061
Volume :
47
Issue :
101895-
Database :
Directory of Open Access Journals
Journal :
Stem Cell Research
Publication Type :
Academic Journal
Accession number :
edsdoj.0d6065c7037b4bb8bd8548e7f36f3fd1
Document Type :
article
Full Text :
https://doi.org/10.1016/j.scr.2020.101895