Fig. 9

Transcriptomic analysis of muscle cell culture nuclei derived from human muscle stem cells identifies fibroblastic and muscle cell types with no apparent bias across MND status. A Whole-transcriptome expression profile patterns for individual nuclei derived from control (Con-13, Con-16) and MND donor (MND-16, MND-9) lines. Distinct expression profile patterns have been reduced to two-dimensions in this Uniform Manifold Approximation and Projection (UMAP) plot. Each point shows results for a single nucleus. MND and non-MND nuclei (pink and blue) are co-clustered in the UMAP, indicating similar patterns of whole-transcriptome expression between MND and controls. B Nuclei annotated for cell-type, identifying two distinct populations: mature skeletal muscle and fibroblasts. C Transcript dot plot comparing levels of expression for some key components of the n-agrin-MuSK signaling cascade in two MND samples versus two non-MND samples (see Additional file 1: Figure S5 for full data set). All four samples show transcripts consistent with their expression in muscle cells. Expression patterns of n-agrin-MuSK signaling transcripts appeared comparable between MND and control. Further, all samples do have nuclei that express transcripts associated with maturing muscle skeletal muscle