Figure 3.

CRISPR-Directed Perturbation of a CAV-Enhancer Region Proximate to a Patient Mutation Reduces CAV1/CAV2 Expression in a Differentiated SH-SY5Y Neuronal Cell

(A) Sanger sequencing traces demonstrating spCas9 cut site adjacent to PAM and subsequent waveform decomposition in enhancer edited cells. Position of chr7:116222625T>C mutation is indicated. Black line indicates gRNA sequence.

(B) Indel distribution within CAV-enhancer region in CRISPR-edited SH-SY5Y cells.

(C and D) qPCR measurement of CAV1 mRNA and CAV2 mRNA reveals reduced expression in CAV-enhancer and CAV1-exon CRISPR-edited neurons compared to CRISPR editing of HPRT; expression normalized relative to loading control.

Data presented as mean ± 1 SD. ^∗∗∗∗p < 0.0001.