<HashMap><database>biostudies-literature</database><scores/><additional><submitter>Cho S</submitter><funding>NHLBI NIH HHS</funding><funding>National Institutes of Health</funding><funding>National Heart Lung and Blood Institute</funding><pagination>102657</pagination><full_dataset_link>https://www.ebi.ac.uk/biostudies/studies/S-EPMC9250545</full_dataset_link><repository>biostudies-literature</repository><omics_type>Unknown</omics_type><volume>59</volume><pubmed_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.</pubmed_abstract><journal>Stem cell research</journal><pubmed_title>Heterozygous LMNA mutation-carrying iPSC lines from three cardiac laminopathy patients.</pubmed_title><pmcid>PMC9250545</pmcid><funding_grant_id>P01 HL141084</funding_grant_id><funding_grant_id>75N92020D00019</funding_grant_id><funding_grant_id>R01 HL130020</funding_grant_id><funding_grant_id>F32 HL152483</funding_grant_id><funding_grant_id>R01 HL150693</funding_grant_id><funding_grant_id>R01 HL113006</funding_grant_id><pubmed_authors>Fowler M</pubmed_authors><pubmed_authors>Lee C</pubmed_authors><pubmed_authors>Wu JC</pubmed_authors><pubmed_authors>Haddad F</pubmed_authors><pubmed_authors>Zhuge Y</pubmed_authors><pubmed_authors>Lai C</pubmed_authors><pubmed_authors>Cho S</pubmed_authors><pubmed_authors>Sallam K</pubmed_authors></additional><is_claimable>false</is_claimable><name>Heterozygous LMNA mutation-carrying iPSC lines from three cardiac laminopathy patients.</name><description>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.</description><dates><release>2022-01-01T00:00:00Z</release><publication>2022 Mar</publication><modification>2024-11-13T10:25:21.416Z</modification><creation>2024-11-13T10:25:21.416Z</creation></dates><accession>S-EPMC9250545</accession><cross_references><pubmed>34999423</pubmed><doi>10.1016/j.scr.2022.102657</doi></cross_references></HashMap>