Dataset Information


RNA-seq of ppp1r13l knockdown in neonatal mice cardiomyocytes and lipopolysaccharide stimulation kinetics transcriptome

ABSTRACT: A novel ppp1r13l sequence variation causes dilated cardiomyopathy and cardiac inflammation. In this experiment we knocked down IASPP (protein product of ppp1r13l) in cardiomyocytes and exposed them to lipopolysaccharide for time interval of 2 and 4 hours. Transcriptome was examined using rna-seq high-throughput sequencing.

INSTRUMENT(S): Illumina HiSeq 2500

ORGANISM(S): Mus musculus  

SUBMITTER: Yiftah Barsheshet  

PROVIDER: E-MTAB-5826 | ArrayExpress | 2017-06-13



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Dilated cardiomyopathy (DCM) is a life-threatening disorder whose genetic basis is heterogeneous and mostly unknown. Five Arab Christian infants, aged 4-30 months from four families, were diagnosed with DCM associated with mild skin, teeth, and hair abnormalities. All passed away before age 3. A homozygous sequence variation creating a premature stop codon at <i>PPP1R13L</i> encoding the iASPP protein was identified in three infants and in the mother of the other two. Patients' fibroblasts and <  ...[more]

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