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


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

Authors Pietsch N, Cheng J, Fazio A, Ewald L, Alizoti E, Krämer E, Orthey E, Carrier L, Singh SR
Journal Stem cell research
Publication Date 2023 Sep;71:103188
PubMed 37633027
DOI 10.1016/j.scr.2023.103188

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