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Generation of a homozygous CRYAB p.Arg120Gly mutant (UKEi001-A-1) from a human iPSC line

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Generation of a homozygous CRYAB p.Arg120Gly mutant (UKEi001-A-1) from a human iPSC line. / Pietsch, Niels; Cheng, Jiancheng; Fazio, Antonietta; Ewald, Leonie; Alizoti, Erda; Krämer, Elisabeth; Orthey, Ellen; Carrier, Lucie; Singh, Sonia R.

In: STEM CELL RES, Vol. 71, 09.2023, p. 103188.

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

Harvard

Pietsch, N, Cheng, J, Fazio, A, Ewald, L, Alizoti, E, Krämer, E, Orthey, E, Carrier, L & Singh, SR 2023, 'Generation of a homozygous CRYAB p.Arg120Gly mutant (UKEi001-A-1) from a human iPSC line', STEM CELL RES, vol. 71, pp. 103188. https://doi.org/10.1016/j.scr.2023.103188

APA

Pietsch, N., Cheng, J., Fazio, A., Ewald, L., Alizoti, E., Krämer, E., Orthey, E., Carrier, L., & Singh, S. R. (2023). Generation of a homozygous CRYAB p.Arg120Gly mutant (UKEi001-A-1) from a human iPSC line. STEM CELL RES, 71, 103188. https://doi.org/10.1016/j.scr.2023.103188

Vancouver

Pietsch N, Cheng J, Fazio A, Ewald L, Alizoti E, Krämer E et al. Generation of a homozygous CRYAB p.Arg120Gly mutant (UKEi001-A-1) from a human iPSC line. STEM CELL RES. 2023 Sep;71:103188. https://doi.org/10.1016/j.scr.2023.103188

Bibtex

@article{b6304a35c3604b628175812ce283f595,
title = "Generation of a homozygous CRYAB p.Arg120Gly mutant (UKEi001-A-1) from a human iPSC line",
abstract = "Variants in CRYAB can lead to desmin-related (cardio-)myopathy (DRM), a genetic muscle disorder with no curative treatment available. We introduced a homozygous CRYAB c.358G > A (p.Arg120Gly) mutation, which is established for the study of DRM in mice, into a donor human induced pluripotent stem cell (hiPSC) line. Control and mutant hiPSCs were tested for karyotype integrity and pluripotency marker expression. HiPSCs could be differentiated into endoderm, ectoderm and cardiomyocytes as a mesodermal derivative in vitro. CRYABhom hiPSC-derived cardiomyocytes developed intracellular CRYAB aggregates, which is a hallmark of DRM. This newly created mutant can be utilized to study DRM and cardiac proteinopathy in a human context.",
author = "Niels Pietsch and Jiancheng Cheng and Antonietta Fazio and Leonie Ewald and Erda Alizoti and Elisabeth Kr{\"a}mer and Ellen Orthey and Lucie Carrier and Singh, {Sonia R}",
note = "Copyright {\textcopyright} 2023 The Authors. Published by Elsevier B.V. All rights reserved.",
year = "2023",
month = sep,
doi = "10.1016/j.scr.2023.103188",
language = "English",
volume = "71",
pages = "103188",
journal = "STEM CELL RES",
issn = "1873-5061",
publisher = "Elsevier",

}

RIS

TY - JOUR

T1 - Generation of a homozygous CRYAB p.Arg120Gly mutant (UKEi001-A-1) from a human iPSC line

AU - Pietsch, Niels

AU - Cheng, Jiancheng

AU - Fazio, Antonietta

AU - Ewald, Leonie

AU - Alizoti, Erda

AU - Krämer, Elisabeth

AU - Orthey, Ellen

AU - Carrier, Lucie

AU - Singh, Sonia R

N1 - Copyright © 2023 The Authors. Published by Elsevier B.V. All rights reserved.

PY - 2023/9

Y1 - 2023/9

N2 - Variants in CRYAB can lead to desmin-related (cardio-)myopathy (DRM), a genetic muscle disorder with no curative treatment available. We introduced a homozygous CRYAB c.358G > A (p.Arg120Gly) mutation, which is established for the study of DRM in mice, into a donor human induced pluripotent stem cell (hiPSC) line. Control and mutant hiPSCs were tested for karyotype integrity and pluripotency marker expression. HiPSCs could be differentiated into endoderm, ectoderm and cardiomyocytes as a mesodermal derivative in vitro. CRYABhom hiPSC-derived cardiomyocytes developed intracellular CRYAB aggregates, which is a hallmark of DRM. This newly created mutant can be utilized to study DRM and cardiac proteinopathy in a human context.

AB - Variants in CRYAB can lead to desmin-related (cardio-)myopathy (DRM), a genetic muscle disorder with no curative treatment available. We introduced a homozygous CRYAB c.358G > A (p.Arg120Gly) mutation, which is established for the study of DRM in mice, into a donor human induced pluripotent stem cell (hiPSC) line. Control and mutant hiPSCs were tested for karyotype integrity and pluripotency marker expression. HiPSCs could be differentiated into endoderm, ectoderm and cardiomyocytes as a mesodermal derivative in vitro. CRYABhom hiPSC-derived cardiomyocytes developed intracellular CRYAB aggregates, which is a hallmark of DRM. This newly created mutant can be utilized to study DRM and cardiac proteinopathy in a human context.

U2 - 10.1016/j.scr.2023.103188

DO - 10.1016/j.scr.2023.103188

M3 - SCORING: Journal article

C2 - 37633027

VL - 71

SP - 103188

JO - STEM CELL RES

JF - STEM CELL RES

SN - 1873-5061

ER -