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

In: Stem Cell Research, Vol. 47, 101895, 08.2020.

Research output: Contribution to journal › Article › peer-review

Harvard

Perepelina, K, Kostina, A, Klauzen, P, Khudiakov, A, Rabino, M, Crasto, S, Zlotina, A, Fomicheva, Y, Sergushichev, A, Oganesian, M, Dmitriev, A, Kostareva, A, Di Pasquale, E & Malashicheva, A 2020, '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 Research, vol. 47, 101895. https://doi.org/10.1016/j.scr.2020.101895

APA

Perepelina, K., Kostina, A., Klauzen, P., Khudiakov, A., Rabino, M., Crasto, S., Zlotina, A., Fomicheva, Y., Sergushichev, A., Oganesian, M., Dmitriev, A., Kostareva, A., Di Pasquale, E., & Malashicheva, A. (2020). 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 Research, 47, [101895]. https://doi.org/10.1016/j.scr.2020.101895

Vancouver

Perepelina K, Kostina A, Klauzen P, Khudiakov A, Rabino M, Crasto S et al. 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 Research. 2020 Aug;47. 101895. https://doi.org/10.1016/j.scr.2020.101895

Author

Perepelina, Kseniya ; Kostina, Aleksandra ; Klauzen, Polina ; Khudiakov, Aleksandr ; Rabino, Martina ; Crasto, Silvia ; Zlotina, Anna ; Fomicheva, Yulia ; Sergushichev, Alexey ; Oganesian, Mari ; Dmitriev, Alexander ; Kostareva, Anna ; Di Pasquale, Elisa ; Malashicheva, Anna. / 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. In: Stem Cell Research. 2020 ; Vol. 47.

BibTeX

@article{13183bb0a54144d8956cb07d2ebb9f2a,
title = "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",
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.",
keywords = "MUTATIONS",
author = "Kseniya Perepelina and Aleksandra Kostina and Polina Klauzen and Aleksandr Khudiakov and Martina Rabino and Silvia Crasto and Anna Zlotina and Yulia Fomicheva and Alexey Sergushichev and Mari Oganesian and Alexander Dmitriev and Anna Kostareva and {Di Pasquale}, Elisa and Anna Malashicheva",
note = "Funding Information: The work was supported by grant from Saint-Petersburg State University № 51094520 , by grant of Russian Foundation of Basic Research 19-015-00313, by grant of Government of Russian Federation (Grant 08-08) and by a grant of the Italian Ministry of Education, University and Research (2015583WMX). Publisher Copyright: {\textcopyright} 2020 Copyright: Copyright 2020 Elsevier B.V., All rights reserved.",
year = "2020",
month = aug,
doi = "10.1016/j.scr.2020.101895",
language = "English",
volume = "47",
journal = "Stem Cell Research",
issn = "1873-5061",
publisher = "Elsevier",

}

RIS

TY - JOUR

T1 - 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

AU - Perepelina, Kseniya

AU - Kostina, Aleksandra

AU - Klauzen, Polina

AU - Khudiakov, Aleksandr

AU - Rabino, Martina

AU - Crasto, Silvia

AU - Zlotina, Anna

AU - Fomicheva, Yulia

AU - Sergushichev, Alexey

AU - Oganesian, Mari

AU - Dmitriev, Alexander

AU - Kostareva, Anna

AU - Di Pasquale, Elisa

AU - Malashicheva, Anna

N1 - Funding Information: The work was supported by grant from Saint-Petersburg State University № 51094520 , by grant of Russian Foundation of Basic Research 19-015-00313, by grant of Government of Russian Federation (Grant 08-08) and by a grant of the Italian Ministry of Education, University and Research (2015583WMX). Publisher Copyright: © 2020 Copyright: Copyright 2020 Elsevier B.V., All rights reserved.

PY - 2020/8

Y1 - 2020/8

N2 - 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.

AB - 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.

KW - MUTATIONS

UR - http://www.scopus.com/inward/record.url?scp=85087702250&partnerID=8YFLogxK

UR - https://www.mendeley.com/catalogue/0a58fc02-393c-357b-9097-feab9697e22f/

U2 - 10.1016/j.scr.2020.101895

DO - 10.1016/j.scr.2020.101895

M3 - Article

AN - SCOPUS:85087702250

VL - 47

JO - Stem Cell Research

JF - Stem Cell Research

SN - 1873-5061

M1 - 101895

ER -

ID: 71709834