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...

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Bibliographic Details
Main Authors: Niels Pietsch, Jiancheng Cheng, Antonietta Fazio, Leonie Ewald, Erda Alizoti, Elisabeth Krämer, Ellen Orthey, Lucie Carrier, Sonia R Singh
Format: Article
Language:English
Published: Elsevier 2023-09-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506123001745