Optimized human cell products for research
and drug discovery

Glycogen Storage Disease Hepatocytes

DefiniGEN Glycogen Storage Disease Modelled Human Hepatocytes

DefiniGEN’s GSD1a human hepatocytes effectively model glycogen storage disease type1a the most common of the glycogen storage diseases. This genetic disease results from a deficiency in the glucose-6-phosphatase (G6P) enzyme which impairs the ability of the liver to produce free glucose from glycogen and from gluconeogenesis. GSD1a human hepatocytes are derived from patients with mutations at the G6P gene positions G22R and Q3477 and these cell products display the disease phenotype in combination with general hepatocyte functions very similar to human primary hepatocytes. Phenotypic analysis of the cells using periodic acid/diastase staining has demonstrated that the cell hyper accumulate glycogen as the glucose-6-phosphatase enzyme is not functional. These cell products can offer disease modelling and drug discovery researchers unprecedented tool for elucidating the underlying mechanisms of this and similar lysosomal storage diseases.

Product Specification

Product ID:
Def-HEP GSD1a
Format:
Cryopreserved
Cell number:
Typically 3-6 million cells per vial
Disease:
Glycogen storage disease type 1a
Viability:
>70%
Applications:
Disease Modelling and Drug Discovery

Disease Circuit Verification

GSD1a DNA Sequencing Chromatogram

Figure 1. DNA sequencing chromatogram illustrating the two heterozygous mutations found in Def-HEP GSD1a.

Detection Of Glycogen Storage via PAS Staining

Period acid-Schiff (PAS) staining revealed Def-HEP GSD1a hepatocytes accumulated substantially greater amounts of intracellular glycogen compared with iPSC derived hepatocytes from control subjects n=3 (Figure 2a); BODIPY staining showed excessive production of intracellular lipid in Def-HEP GSD1a hepatocytes (Figure 2b); and Def-HEP GSD1a hepatocytes secrete more lactate compared with iPSC 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 (Figure 2c).

PAS Staining

Figure 2. a) Period acid-Schiff (PAS) staining revealed Def-HEP GSDIa hepatocytes accumulated substantially greater amounts of intracellular glycogen than did those of controls (Figure 2a) and showed excessive production of lipid (Figure 2b) and lactic acid (Figure 2c) confirming the cellular disease phenotype.(Courtesy; Rashid et. al 2010). 

A)

PAS Staining

B)

PAS Staining

Figure 3. PAS/Diastase staining of cryopreserved Def-HEP GSD1a. Magnification level: x400. (A) PAS/Diastase staining showing breakdown of accumulated glycogen in the cells. (B) PAS staining showing accumulation of glycogen in the cells.

 

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