Fig. 3
From: EHE cell cultures are a platform for mechanistic and therapeutic investigation
Genomic characterization of EHE extended primary cell cultures. (A) Table summarizing single nucleotide variants (SNVs) previously identified by whole genome sequencing in the EHE 001, EHE 036, EHE 053, and EHE 061 extended primary cell cultures and comparison with previous reports. Description of the amino acid substitution or other function consequence of the genomic alteration is included as well as the biological pathways involved. Similar genomic variants previously reported in the literature are represented. (B) GO Cellular Component pathway enrichment analysis of all moderate and high impact single nucleotide variants of the combined EHE cell cultures with an FDR of < 0.05. (C) Table describing the single nucleotide variants observed in the mucin genes in the EHE extended primary cell cultures. SNV indicates the presence of a single nucleotide variant. (D) Venn diagram showing the overlap in copy number variants between all the extended primary cell cultures. (E) GO Molecular Function pathway enrichment analysis of the 34 shared copy number variants (CNV) among all EHE cell cultures with an FDR of < 0.05. (F) Table containing key genes in the CNV pathway analysis in panel (E). DUP indicates the presence of a duplication. DEL indicates the presence of a deletion.
