Pluto Bioinformatics

GSE150365: Transcriptome analysis of C2C12 myoblasts with mutations in LMNA gene

Bulk RNA sequencing

Mutations in LMNA gene cause laminopathies in human. Mostly, laminopathies alter skeletal muscle tissue and lead to cardiomathy and lipodystrophy. We investigated the effect of mutations G232E (EDMD2 syndome) and R482L (FPLD2 syndrome) in LMNA gene on skeletal muclse functioning and metabolism using transgenic C2C12 myoblast cell lines and transcriptome analysis. We found abnormalities of nuclear lamina structure in mutant myoblasts, treir pro-myogenic commitment and metabolic disregulation on all stages of transgenic myoblasts differentiation. SOURCE: Oksana Ivanova ( - Cell biology Almazov National Medical Research Centre

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