Ontology highlight
ABSTRACT:
SUBMITTER: Salvarani N
PROVIDER: S-EPMC6531493 | biostudies-literature | 2019 May
REPOSITORIES: biostudies-literature
Nature communications 20190522 1
Mutations in LMNA, which encodes the nuclear proteins Lamin A/C, can cause cardiomyopathy and conduction disorders. Here, we employ induced pluripotent stem cells (iPSCs) generated from human cells carrying heterozygous K219T mutation on LMNA to develop a disease model. Cardiomyocytes differentiated from these iPSCs, and which thus carry K219T-LMNA, have altered action potential, reduced peak sodium current and diminished conduction velocity. Moreover, they have significantly downregulated Na<su ...[more]