Human iPSC-Derived Muscle Cells as a New Model for Investigation of EDMD1 Pathogenesis.

ABSTRACT: Emery-Dreifuss muscular dystrophy type 1 (EDMD1) is a rare genetic disease caused by mutations in the EMD gene, which encodes the nuclear envelope protein emerin. Despite understanding the genetic basis of the disease, the molecular mechanism underlying muscle and cardiac pathogenesis remains elusive. Progress is restricted by the limited availability of patient-derived samples; therefore, there is an urgent need for human-specific cellular models. In this study, we present the generation and characterization of induced pluripotent stem cell (iPSC) lines derived from EDMD1 patients carrying EMD mutations that lead to truncated or absent emerin, together with iPSCs from healthy donor. The patient-specific iPSCs exhibit stable karyotypes, maintain appropriate morphology, expres

SUBMITTER: Lisowska M 

PROVIDER: S-EPMC11855679 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature