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Generation of bi-allelic MYBPC3 truncating mutant and isogenic control from an iPSC line of a patient with hypertrophic cardiomyopathy

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Generation of bi-allelic MYBPC3 truncating mutant and isogenic control from an iPSC line of a patient with hypertrophic cardiomyopathy. / Warnecke, Nele Annika; Ulmer, Bärbel M; Laufer, Sandra D; Shibamiya, Aya; Krämer, Elisabeth; Neuber, Christiane; Hanke, Sophia; Behrens, Charlotta; Loos, Malte; Münch, Julia; Kühnisch, Jirko; Klaassen, Sabine; Eschenhagen, Thomas; Patten-Hamel, Monica; Carrier, Lucie; Mearini, Giulia.

In: STEM CELL RES, Vol. 55, 08.2021, p. 102489.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Warnecke, NA, Ulmer, BM, Laufer, SD, Shibamiya, A, Krämer, E, Neuber, C, Hanke, S, Behrens, C, Loos, M, Münch, J, Kühnisch, J, Klaassen, S, Eschenhagen, T, Patten-Hamel, M, Carrier, L & Mearini, G 2021, 'Generation of bi-allelic MYBPC3 truncating mutant and isogenic control from an iPSC line of a patient with hypertrophic cardiomyopathy', STEM CELL RES, vol. 55, pp. 102489. https://doi.org/10.1016/j.scr.2021.102489

APA

Warnecke, N. A., Ulmer, B. M., Laufer, S. D., Shibamiya, A., Krämer, E., Neuber, C., Hanke, S., Behrens, C., Loos, M., Münch, J., Kühnisch, J., Klaassen, S., Eschenhagen, T., Patten-Hamel, M., Carrier, L., & Mearini, G. (2021). Generation of bi-allelic MYBPC3 truncating mutant and isogenic control from an iPSC line of a patient with hypertrophic cardiomyopathy. STEM CELL RES, 55, 102489. https://doi.org/10.1016/j.scr.2021.102489

Vancouver

Warnecke NA, Ulmer BM, Laufer SD, Shibamiya A, Krämer E, Neuber C et al. Generation of bi-allelic MYBPC3 truncating mutant and isogenic control from an iPSC line of a patient with hypertrophic cardiomyopathy. STEM CELL RES. 2021 Aug;55:102489. https://doi.org/10.1016/j.scr.2021.102489

Bibtex

@article{f177753ef4394c4b8ed241fa3995fd13,
title = "Generation of bi-allelic MYBPC3 truncating mutant and isogenic control from an iPSC line of a patient with hypertrophic cardiomyopathy",
abstract = "MYBPC3 is the most frequently affected gene in hypertrophic cardiomyopathy (HCM), which is an autosomal-dominant cardiac disease caused by mutations in sarcomeric proteins. Bi-allelic truncating MYBPC3 mutations are associated with severe forms of neonatal cardiomyopathy. We reprogrammed skin fibroblasts from a HCM patient carrying a heterozygous MYBPC3 truncating mutation into human induced pluripotent stem cells (iPSC) and used CRISPR/Cas9 to generate bi-allelic MYBPC3 truncating mutation and isogenic control hiPSC lines. All lines expressed pluripotency markers, had normal karyotype and differentiated into endoderm, ectoderm and cardiomyocytes in vitro. This set of three lines provides a useful tool to study HCM pathomechanisms.",
author = "Warnecke, {Nele Annika} and Ulmer, {B{\"a}rbel M} and Laufer, {Sandra D} and Aya Shibamiya and Elisabeth Kr{\"a}mer and Christiane Neuber and Sophia Hanke and Charlotta Behrens and Malte Loos and Julia M{\"u}nch and Jirko K{\"u}hnisch and Sabine Klaassen and Thomas Eschenhagen and Monica Patten-Hamel and Lucie Carrier and Giulia Mearini",
note = "Copyright {\textcopyright} 2021 The Author(s). Published by Elsevier B.V. All rights reserved.",
year = "2021",
month = aug,
doi = "10.1016/j.scr.2021.102489",
language = "English",
volume = "55",
pages = "102489",
journal = "STEM CELL RES",
issn = "1873-5061",
publisher = "Elsevier",

}

RIS

TY - JOUR

T1 - Generation of bi-allelic MYBPC3 truncating mutant and isogenic control from an iPSC line of a patient with hypertrophic cardiomyopathy

AU - Warnecke, Nele Annika

AU - Ulmer, Bärbel M

AU - Laufer, Sandra D

AU - Shibamiya, Aya

AU - Krämer, Elisabeth

AU - Neuber, Christiane

AU - Hanke, Sophia

AU - Behrens, Charlotta

AU - Loos, Malte

AU - Münch, Julia

AU - Kühnisch, Jirko

AU - Klaassen, Sabine

AU - Eschenhagen, Thomas

AU - Patten-Hamel, Monica

AU - Carrier, Lucie

AU - Mearini, Giulia

N1 - Copyright © 2021 The Author(s). Published by Elsevier B.V. All rights reserved.

PY - 2021/8

Y1 - 2021/8

N2 - MYBPC3 is the most frequently affected gene in hypertrophic cardiomyopathy (HCM), which is an autosomal-dominant cardiac disease caused by mutations in sarcomeric proteins. Bi-allelic truncating MYBPC3 mutations are associated with severe forms of neonatal cardiomyopathy. We reprogrammed skin fibroblasts from a HCM patient carrying a heterozygous MYBPC3 truncating mutation into human induced pluripotent stem cells (iPSC) and used CRISPR/Cas9 to generate bi-allelic MYBPC3 truncating mutation and isogenic control hiPSC lines. All lines expressed pluripotency markers, had normal karyotype and differentiated into endoderm, ectoderm and cardiomyocytes in vitro. This set of three lines provides a useful tool to study HCM pathomechanisms.

AB - MYBPC3 is the most frequently affected gene in hypertrophic cardiomyopathy (HCM), which is an autosomal-dominant cardiac disease caused by mutations in sarcomeric proteins. Bi-allelic truncating MYBPC3 mutations are associated with severe forms of neonatal cardiomyopathy. We reprogrammed skin fibroblasts from a HCM patient carrying a heterozygous MYBPC3 truncating mutation into human induced pluripotent stem cells (iPSC) and used CRISPR/Cas9 to generate bi-allelic MYBPC3 truncating mutation and isogenic control hiPSC lines. All lines expressed pluripotency markers, had normal karyotype and differentiated into endoderm, ectoderm and cardiomyocytes in vitro. This set of three lines provides a useful tool to study HCM pathomechanisms.

U2 - 10.1016/j.scr.2021.102489

DO - 10.1016/j.scr.2021.102489

M3 - SCORING: Journal article

C2 - 34375846

VL - 55

SP - 102489

JO - STEM CELL RES

JF - STEM CELL RES

SN - 1873-5061

ER -