Figure 5.

EGFP/HA double-tagged ClC-5 expression in RCTE cells. Human immortalized RCTE cells were transfected with GFP/HA double-tagged ClC-5 WT or patient-specific mutations and incubated overnight at 37 °C. EGFP signal, representing total ClC-5, and Alexa 594-HA tag (red), indicating surface ClC-5 expression, were co-localized along the cell membrane distributed in a punctate fashion in cells expressing WT and S244L. No plasma membrane distribution of ClC-5 protein was detected in R345W and Q629* variant-expressing cells.