A human induced pluripotent stem cell line with a homozygous deletion in the SYNM gene has been generated using CRISPR/Cas9 genome editing. This cell line exhibits typical characteristics of pluripotent cells and normal differentiation capacity, making it suitable for studying the role of synemin in cardiomyopathy.
A number of genetic variants in the SYNM gene encoding for the intermediate filament synemin have been reported in patients with cardiomyopathies, skeletal myopathies, cancer and certain neurodegenerative disorders. To better understand its role, we generated a human induced pluripotent stem cell line with a ho-mozygous deletion in the SYNM gene by CRISPR/Cas9 genome editing. The synemin-knockout human induced pluripotent stem cells exhibit typical morphology of pluripotent cells, expression of pluripotency markers, normal karyotype and differentiation capacity in the three germ layers. This line will allow us to investigate the role of synemin in cardiomyopathy upon differentiation into beating cardiomyocytes.
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