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Single-nucleus RNA sequencing of OCTN2-defective engineered heart tissues and isogenic control

ABSTRACT: Primary carnitine deficiency (PCD) is an autosomal recessive disorder caused by mutations in the gene SLC22A5, encoding for the plasmalemmal carnitine transporter OCTN2. PCD patients suffer from muscular weakness and dilated cardiomyopathy (DCM). However, currently available PCD models were unable to distinguish causative from secondary pathomechanisms. To further understand the contribution of cellular subclusters to the PCD disease phenotype we analyzed engineered heart tissues from OCTN2-defective genotype in comparison to isogenic control using single-nucleus RNA sequencing.

ORGANISM(S): Homo sapiens

PROVIDER: GSE211650 | GEO | 2022/08/22

REPOSITORIES: GEO

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