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, Jahrgang 71, 09.2023, S. 103188.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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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 -