Gene expression profile at single cell level of C2C12 myoblasts bearing human LMNA gene with mutations WT, R482L

LMNA mutation R482L cause classical familial partial lipodystrophy of Dunnigan type (FPLD2). FPLD is a severe metabolic disorder that often leads to cardiovascular and skeletal muscle complications. How LMNA mutations affect functional properties of skeletal muscles is still not understood. In the present project we investigated the LMNA-R482L mutation-specific alterations in mouse C2C12 line of myoblasts using single cell RNA sequencing (scRNA-seq). We showed the heterogeneity of C2C12 myoblasts cell line prior the differentiation, and compositional and transcriptional changes in LMNA-R482L C2C12 myoblasts comparing to LMNA-WT. Overall design: C2C12 mouse myoblast cell line was genetically modified by the lentivirus with human LMNA gene of wild-type (WT) or bearing mutation R482L. 1 sample of LMNA-WT and 2 samples of LMNA-R482L C2C12 myoblasts were taken for scRNA-seq library preparation using 10X Single Cell 3' Gene Expression protocol and sequenced with NextSeq 2000 resulting in 3000 cells per sample. Data was analysed using Cell Ranger v6.1.2 (with pre-built mouse reference refdata-gex-mm10-2020-A), Seurat package v4.3.0. Supplementary file contains raw and filtered feature_bc_matrixes (.h5 format) for each sample.