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. 2010 Aug 25;120(9):3127–3136. doi: 10.1172/JCI43122

Figure 4. In vitro modeling of GSD1a using disease-specific human iPS cells.

Figure 4

(A) GSD1a disease-specific human iPS cells differentiated to hepatocytes displayed functional activity characteristic of primary human hepatocytes, including intracellular presence of albumin, albumin secretion, and active CytP450 metabolism. Error bars denote SEM. (B) PAS staining showing excessive accumulation of intracellular glycogen in GSD1a disease-specific human iPS cell–derived hepatocytes compared with human iPS cell–derived hepatocytes from control subjects. n = 3. (C) BODIPY staining showed excessive accumulation of intracellular lipid in GSD1a disease-specific human iPS cell–derived hepatocytes compared with human iPS cell–derived hepatocytes from control subjects. n = 3. (D) Disease-specific human iPS cell–derived hepatocytes appropriately upregulated transcriptional targets of glucagon, as shown by quantitative RT-PCR analysis of PEPCK, glucose-6-phosphatase (G6P), and IGFBP1 expression analyzed 0, 1, 2, and 3 hours after stimulation with 100 nM glucagon hydrochloride. Error bars denote SEM. n = 3. (E) GSD1a disease-specific human iPS cell–derived hepatocytes secreted more lactate than did human iPS cell–derived hepatocytes from control subjects, as assessed by ELISA analysis of a 24-hour collection of cell culture medium. Error bars denote SEM. n = 3. Original magnification, ×40 (A; B, bottom; and C).