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| 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
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| 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.
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| 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)
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| Contributor(s) |
Karakikes I, Stillitano F, Nonnenmacher M, Hansen J, Hajjar RJ |
| Citation missing |
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| Submission date |
Feb 09, 2015 |
| Last update date |
May 15, 2019 |
| Contact name |
FRANCESCA STILLITANO |
| E-mail(s) |
francesca.stillitano@mssm.edu
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| Phone |
+12128249020
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| Organization name |
Mount Sinai School of Medicine
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| Department |
CARDIOVASCULAR RESEARCH
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| Street address |
1470 Madison Avenue
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| City |
NEW YORK |
| State/province |
NY |
| ZIP/Postal code |
10029 |
| Country |
USA |
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| Platforms (1) |
| GPL16791 |
Illumina HiSeq 2500 (Homo sapiens) |
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| Samples (3) |
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| This SubSeries is part of SuperSeries: |
| GSE65763 |
Correction of human phospholamban R14del mutation associated with cardiomyopathy using targeted nucleases and combination therapy |
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| Relations |
| BioProject |
PRJNA274971 |
| SRA |
SRP053367 |
