The CAL51 breast cancer cell line harbors a heterozygous SLFN12 Phe-185 frameshift mutation.
A, SLFN12 gene diagram showing the position of the F185fs mutation. The locations of the primers, located within a single exon, used for genomic DNA PCR and sequencing are indicated below. B, heterozygous 1-bp deletion, as reported by CCLE (8). C, sequence alignment of PCR products to the reference sequence. Note that clean sequence peaks align perfectly to reference sequence before the stretch of Ts (marked by an asterisk), and overlapping peaks appear after the stretch of Ts. GB1 glioma cells, used as a WT control, showed perfect alignment across the entire region. fs, frameshift; WES, whole-exome sequencing; WGS, whole-genome sequencing; alt, alternate allele; ref, reference allele.