FIGURE

FIGURE 1

ID

ZDB-FIG-221118-124

Publication

Xia et al., 2022 - COG4 mutation in Saul-Wilson syndrome selectively affects secretion of proteins involved in chondrogenesis in chondrocyte-like cells

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FIGURE 1

Generated COG4^p.G516R and COG4-KO cells show similar features as SWS- and COG4-CDG-derived fibroblasts. (A) Sequencing verification of COG4^p.G516R CRISPR knock-in in chondrosarcoma SW1353 cells. (B) Western blotting verification of COG4^p.G516R and COG4-KO SW1353 cells. (C) BFA-induced retrograde trafficking in COG4^p.G516R and COG4-KO cells compared to WT SW1353 cells. (D) BFA-induced retrograde trafficking in control, SWS and CDG-COG4 fibroblasts. GM00038 and COG4-CDG were performed in this study. ATCC63792061, SWS P1.1 and P5.1 were from published data (Ferreira et al., 2018). Data were presented as mean with standard error (SD). (E) COG complex shifts to heavier fraction in glycerol gradient in SW1353 cells expressing COG4^p.G516R variant. Western, trafficking and gradient experiments were performed in triplicate with similar results.

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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