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[Preprint]. 2023 Feb 3:2023.01.31.525066. [Version 1] doi: 10.1101/2023.01.31.525066

Figure 2. Neuroblastoma cells heterozygous for disease-associated BARD1 loss-of-function variants (BARD1+/mut) have reduced BARD1 expression.

Figure 2.

(A) Representative chromatograms from IMR-5 and RPE1 BARD1+/mut isogenic cell lines. Black arrows indicate CRISPR-introduced BARD1 heterozygous variants. Other variants reflect synonymous PAM changes (R150*, Q564*) or frameshift-induced nucleotide alterations (E287fs).

(B, C) BARD1 and BRCA1 expression in IMR-5 BARD1+/mut (B) and RPE1 BARD1+/mut (C) cells and non-targeted clonal control cells. BARD1 expression measured via two unique TaqMan® probes.

B and C are represented as means ± SD of 2 biological replicates of each unique cell line, including multiple cell lines with identical BARD1 variants (n = 2 IMR-5 BARD1+/R112*, n = 1 for IMR-5 BARD1+/R150* and n = 3 for IMR-5 BARD1+/E287fs cell lines).