Abstract:Primary carnitine deficiency (PCD) is an autosomal recessive monogenic disorder caused by mutations in SLC22A5. This gene encodes for OCTN2 which transports the essential metabolite carnitine into the cell. PCD patients suffer from muscular weakness and dilated cardiomyopathy. Detailed molecular disease mechanisms remain unclear. Two OCTN2-defective human induced pluripotent stem cell lines were generated from a healthy control line, carrying a full OCTN2-knockout and a homozygous OCTN2 (N32S) loss of function… Show more
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