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Series GSE65762 Query DataSets for GSE65762
Status Public on Feb 09, 2015
Title Correction of human phospholamban R14del mutation associated with cardiomyopathy using targeted nucleases and combination therapy [Exome-Seq]
Organism Homo sapiens
Experiment type Genome variation profiling by high throughput sequencing
Summary Phospholamban R14del mutazion (PLN-R14del) has been identified in a large family pedigree in which heterozygous carriers exhibited inherited dilated cardiomyopathy (DCM) and death by middle age. To better understand the causal link between the mutations in PLN and DCM pathology, we derived induced pluripotent stem cells from a DCM patient carrying the PLN R14del mutation. We showed that iPSC-derived cardiomyocytes recapitulated the DCM-specific phenotype and demonstrated that either TALEN-mediated genetic correction or combinatorial gene therapy resulted in phenotypic rescue. Our findings offer novel insights into the pathogenesis caused by mutant PLN and point to the development of potential new therapeutics of pathogenic genetic variants associated with inherited cardiomyopathies.
Submitter confirms there are no patient privacy concerns with these data.
Overall design iPSCs were derived from a female patient carrying a heterozygous mutation (R14del) in the PLN gene. Tree samples were analyzed: R14del-CMs (clone L2), corrected R14del-CMs (clone L2GC1) and corrected R14del-CMs (clone L2GC2)
Contributor(s) Karakikes I, Stillitano F, Nonnenmacher M, Hansen J, Hajjar RJ
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Submission date Feb 09, 2015
Last update date May 15, 2019
Phone +12128249020
Organization name Mount Sinai School of Medicine
Street address 1470 Madison Avenue
State/province NY
ZIP/Postal code 10029
Country USA
Platforms (1)
GPL16791 Illumina HiSeq 2500 (Homo sapiens)
Samples (3)
GSM1604268 R14del-CMs (clone L2)
GSM1604269 corrected R14del-CMs (clone L2GC1)
GSM1604270 corrected R14del-CMs (clone L2GC2)
This SubSeries is part of SuperSeries:
GSE65763 Correction of human phospholamban R14del mutation associated with cardiomyopathy using targeted nucleases and combination therapy
BioProject PRJNA274971
SRA SRP053367

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