Fig. 2. LRRK2 pLoF heterozygotes have reduced LRRK2 protein compared to cells harboring no LoF variants.
a, Immunoblot of LRRK2 and loading control GAPDH on LCLs from five individuals harboring no pLoF variants (LRRK2-WT) and three individuals harboring a heterozygous (Het) pLoF variant (Cys1313Ter; 12-40699748-T-A; Arg1483Ter; 12-40704362-C-T). Experiments were repeated ten times with similar results. b, Immunoblot of LRRK2, alpha-actinin (specific to muscle) and GAPDH on three control lines and one CRISPR/Cas9-engineered LRRK2 heterozygous line of cardiomyocytes differentiated from embryonic stem cells (ESCs) (Arg1693Ter-12-40714897-C-T). All variant protein descriptions are with respect to ENSP00000298910.7. Experiments were repeated five times with similar results.