Stem cell research · 8 authors, 7 centres
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This study used CRISPR-Cas9 to create a human embryonic stem cell line carrying a heterozygous R257C mutation in the ACTG2 gene, which causes a severe smooth muscle disease. The resource is intended for future laboratory studies of the mutation's effects on smooth muscle cell biology.
Researchers used CRISPR-Cas9 gene editing to introduce the heterozygous ACTG2 R257C mutation into the WAe0009-A human embryonic stem cell line. The engineered cell line was characterized through multiple methods, including morphology assessment, marker analysis, karyotyping, STR analysis, Sanger sequencing, and restriction digest. The work confirmed the correct genetic modification, absence of plasmid integration, normal karyotype, pluripotency, and mycoplasma-negative status. The central result is the successful generation and validation of this specific cell line resource. This resource is designed for preclinical studies to investigate the molecular and cellular mechanisms by which this ACTG2 variant leads to visceral myopathy, a life-threatening condition. The study is a foundational resource description with no functional disease outcomes reported; its utility is for enabling future research into a condition with currently only supportive therapies.
