| Literature DB >> 34999423 |
Sangkyun Cho1, Chelsea Lee1, Celine Lai1, Yan Zhuge2, Francois Haddad3, Michael Fowler3, Karim Sallam3, Joseph C Wu4.
Abstract
LMNA-related dilated cardiomyopathy (LMNA-DCM) is caused by pathogenic variants in the LMNA gene and is characterized by left ventricular chamber enlargement, reduced systolic function, and arrhythmia. Here, we generated three human induced pluripotent stem cell (iPSC) lines from peripheral blood mononuclear cells (PBMCs) of three DCM patients carrying the same single heterozygous mutation, c.398 G > A, in LMNA. All lines exhibited normal iPSC morphology, expressed high levels of pluripotency markers, showed normal karyotypes, and could differentiate into the three germ layers. These patient-specific iPSC lines can serve as invaluable tools to model in vitro pathological mechanisms of LMNA-DCM.Entities:
Year: 2022 PMID: 34999423 PMCID: PMC9250545 DOI: 10.1016/j.scr.2022.102657
Source DB: PubMed Journal: Stem Cell Res ISSN: 1873-5061 Impact factor: 1.587