Generation of two iPSC lines (FAMRCi006-A and FAMRCi006-B) from patient with dilated cardiomyopathy and Emery–Dreifuss muscular dystrophy associated with genetic variant LMNAp.Arg527Pro.

Kseniya Perepelina; Polina Klauzen; Aleksandr Khudiakov; Anna Zlotina; Yulia Fomicheva; Dmitry Rudenko; Mikhail Gordeev; Alexey Sergushichev; Anna Malashicheva; Anna Kostareva

doi:10.1016/j.scr.2020.101714

Generation of two iPSC lines (FAMRCi006-A and FAMRCi006-B) from patient with dilated cardiomyopathy and Emery–Dreifuss muscular dystrophy associated with genetic variant LMNAp.Arg527Pro.

Kseniya Perepelina, Polina Klauzen, Aleksandr Khudiakov, Anna Zlotina, Yulia Fomicheva, Dmitry Rudenko, Mikhail Gordeev, Alexey Sergushichev, Anna Malashicheva, Anna Kostareva

Division of Immunobiology

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6 Scopus citations

Abstract

Mutations in LMNA gene are known to cause a broad range of diseases called laminopathies. We have generated two induced pluripotent stem cell lines FAMRCi006-A and FAMRCi006-B from a patient carrying LMNA p. p.Arg527Pro mutation associated with Emery–Dreifuss muscular dystrophy and dilated cardiomyopathy. Patient-specific peripheral blood mononuclear cells were reprogrammed to iPSCs using Sendai virus reprogramming system. Characterization of iPSCs had revealed pluripotency marker expression, normal karyotype, ability to differentiate into three embryonic germ layers. The reported iPSC lines could be a useful tool for in vitro modeling of laminopathies associated with LMNA genetic variants.

Original language	English
Article number	101714
Journal	Stem Cell Research
Volume	43
DOIs	https://doi.org/10.1016/j.scr.2020.101714
State	Published - Mar 2020

Keywords

Dilated cardiomyopathy
Emery-Dreifuss muscular dystrophy
Induced pluripotent stem cells
Laminopathies

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10.1016/j.scr.2020.101714

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Perepelina, K., Klauzen, P., Khudiakov, A., Zlotina, A., Fomicheva, Y., Rudenko, D., Gordeev, M., Sergushichev, A., Malashicheva, A., & Kostareva, A. (2020). Generation of two iPSC lines (FAMRCi006-A and FAMRCi006-B) from patient with dilated cardiomyopathy and Emery–Dreifuss muscular dystrophy associated with genetic variant LMNAp.Arg527Pro. Stem Cell Research, 43, Article 101714. https://doi.org/10.1016/j.scr.2020.101714

@article{5a80af492bae4b1087ad1a91944d3a52,

title = "Generation of two iPSC lines (FAMRCi006-A and FAMRCi006-B) from patient with dilated cardiomyopathy and Emery–Dreifuss muscular dystrophy associated with genetic variant LMNAp.Arg527Pro.",

abstract = "Mutations in LMNA gene are known to cause a broad range of diseases called laminopathies. We have generated two induced pluripotent stem cell lines FAMRCi006-A and FAMRCi006-B from a patient carrying LMNA p. p.Arg527Pro mutation associated with Emery–Dreifuss muscular dystrophy and dilated cardiomyopathy. Patient-specific peripheral blood mononuclear cells were reprogrammed to iPSCs using Sendai virus reprogramming system. Characterization of iPSCs had revealed pluripotency marker expression, normal karyotype, ability to differentiate into three embryonic germ layers. The reported iPSC lines could be a useful tool for in vitro modeling of laminopathies associated with LMNA genetic variants.",

keywords = "Dilated cardiomyopathy, Emery-Dreifuss muscular dystrophy, Induced pluripotent stem cells, Laminopathies",

author = "Kseniya Perepelina and Polina Klauzen and Aleksandr Khudiakov and Anna Zlotina and Yulia Fomicheva and Dmitry Rudenko and Mikhail Gordeev and Alexey Sergushichev and Anna Malashicheva and Anna Kostareva",

note = "Publisher Copyright: {\textcopyright} 2020",

year = "2020",

month = mar,

doi = "10.1016/j.scr.2020.101714",

language = "English",

volume = "43",

journal = "Stem Cell Research",

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Perepelina, K, Klauzen, P, Khudiakov, A, Zlotina, A, Fomicheva, Y, Rudenko, D, Gordeev, M, Sergushichev, A, Malashicheva, A & Kostareva, A 2020, 'Generation of two iPSC lines (FAMRCi006-A and FAMRCi006-B) from patient with dilated cardiomyopathy and Emery–Dreifuss muscular dystrophy associated with genetic variant LMNAp.Arg527Pro.', Stem Cell Research, vol. 43, 101714. https://doi.org/10.1016/j.scr.2020.101714

Generation of two iPSC lines (FAMRCi006-A and FAMRCi006-B) from patient with dilated cardiomyopathy and Emery–Dreifuss muscular dystrophy associated with genetic variant LMNAp.Arg527Pro. / Perepelina, Kseniya; Klauzen, Polina; Khudiakov, Aleksandr et al.
In: Stem Cell Research, Vol. 43, 101714, 03.2020.

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

TY - JOUR

T1 - Generation of two iPSC lines (FAMRCi006-A and FAMRCi006-B) from patient with dilated cardiomyopathy and Emery–Dreifuss muscular dystrophy associated with genetic variant LMNAp.Arg527Pro.

AU - Perepelina, Kseniya

AU - Klauzen, Polina

AU - Khudiakov, Aleksandr

AU - Zlotina, Anna

AU - Fomicheva, Yulia

AU - Rudenko, Dmitry

AU - Gordeev, Mikhail

AU - Sergushichev, Alexey

AU - Malashicheva, Anna

AU - Kostareva, Anna

PY - 2020/3

Y1 - 2020/3

N2 - Mutations in LMNA gene are known to cause a broad range of diseases called laminopathies. We have generated two induced pluripotent stem cell lines FAMRCi006-A and FAMRCi006-B from a patient carrying LMNA p. p.Arg527Pro mutation associated with Emery–Dreifuss muscular dystrophy and dilated cardiomyopathy. Patient-specific peripheral blood mononuclear cells were reprogrammed to iPSCs using Sendai virus reprogramming system. Characterization of iPSCs had revealed pluripotency marker expression, normal karyotype, ability to differentiate into three embryonic germ layers. The reported iPSC lines could be a useful tool for in vitro modeling of laminopathies associated with LMNA genetic variants.

AB - Mutations in LMNA gene are known to cause a broad range of diseases called laminopathies. We have generated two induced pluripotent stem cell lines FAMRCi006-A and FAMRCi006-B from a patient carrying LMNA p. p.Arg527Pro mutation associated with Emery–Dreifuss muscular dystrophy and dilated cardiomyopathy. Patient-specific peripheral blood mononuclear cells were reprogrammed to iPSCs using Sendai virus reprogramming system. Characterization of iPSCs had revealed pluripotency marker expression, normal karyotype, ability to differentiate into three embryonic germ layers. The reported iPSC lines could be a useful tool for in vitro modeling of laminopathies associated with LMNA genetic variants.

KW - Dilated cardiomyopathy

KW - Emery-Dreifuss muscular dystrophy

KW - Induced pluripotent stem cells

KW - Laminopathies

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DO - 10.1016/j.scr.2020.101714

M3 - Article

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AN - SCOPUS:85079200633

SN - 1873-5061

VL - 43

JO - Stem Cell Research

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ER -

Generation of two iPSC lines (FAMRCi006-A and FAMRCi006-B) from patient with dilated cardiomyopathy and Emery–Dreifuss muscular dystrophy associated with genetic variant LMNAp.Arg527Pro.

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