FIGURE

Fig. 2

ID

ZDB-FIG-221023-25

Publication

Marom et al., 2021 - COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay

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Fig. 2

Figure 2. COPB2 haploinsufficiency results in abnormal cellular morphology

(A) COPB2 qPCR in lymphoblastoid cells from subject 1 (proband) showing decreased COPB2 expression by about 50% compared to expression in parents and sibling.

(B) COPB2 qPCR in skin fibroblasts from subject 2 (proband) and her mother showing decreased COPB2 expression by about 50% compared to expression in parent. Results shown as COPB2/GAPDH relative mRNA expression, ^∗p = 0.0002 (one-way ANOVA) for subject 1, and ^∗p = 0.002 (t test) for subject 2.

(C) Electron microscopy of subject 2 fibroblasts showing dilated ER containing granular matrix (red arrows), prominent rough ER (blue arrows), vacuoles (white arrow), and dominant pseudopodia on the cytoplasmic membrane (black arrows).

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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