Gene expression and epigenetic analyses of human myocytes from different muscles

The study contains expression, DNA methylation data and genomic data of in vitro cultured primary myoblasts, immortalized control myoblast, and mutant myoblasts. The primary myoblasts were derived from biopsies of control, facioscapulohumeral dystrophy 1 (FSHD1) and FSHD2 patients from the tibialis anterior, quadricep, bicep and deltoid. FSHD is linked to DUX4 (Gene ID: 100288687) mRNA expression from the last copy of the D4Z4 repeats on chromosome 4q. The control myoblast cell line was derived from a quadricep biopsy of a healthy individual. The mutant cells, carrying either D4Z4 mutations, SMCHD1 (Gene ID: 23347) mutation or both, were generated from the control myoblast cells by CRISPR-mediated genome editing. Expression data is from bulk RNA-seq using the SmartSeq2 protocol for days... (for more see dbGaP study page.)