Establishment of a homozygous LMNA knock-out human induced pluripotent stem cell line using CRISPR/Cas9 system

Abstract

The LMNA gene encodes lamin A/C, essential components of the nuclear envelope that play crucial roles in maintaining nuclear architecture, mechanotransduction, and gene regulation. LMNA mutations are linked to laminopathies, affecting multiple organ systems, including muscle, adipose tissue, and the cardiovascular system. To investigate LMNA-related disorders, we generated a human-induced pluripotent stem cell (hiPSC) line with a homozygous LMNA frameshift mutation (c.351_352insA) using CRISPR/Cas9 genome editing. The edited hiPSCs retained normal colony morphology and expressed key pluripotency markers. This LMNA knockout hiPSC line provides a valuable model for studying lamin A/C functions in nuclear integrity, cellular homeostasis, and disease pathogenesis.