| |
IMD |
Genotype |
Functional analysis of iPSC hepatocytes and comments |
Reference |
| 1
|
α1-antitrypsin deficiency (A1ATD) |
Homozygous Glu342Lys mutation in Z allele |
Polymerized AAT protein demonstrated in the mutant iPSC-hepatocytes. |
Rashid et al. [36]
|
| Glycogen storage disease type 1 a (GSD1a) |
Deficiency of hepatic glucose-6-phosphatase enzyme |
Increased accumulation of glycogen in the cytoplasm of differentiated hepatocytes. |
| Familial hypercholesterolemia (FH) |
Defective LDL receptor (Autosomal-dominant mutation) |
Demonstrated defect in LDL uptake by mutant iPSC-hepatocytes. |
| Crigler-Najjar syndrome |
Homozygous for 13-bp deletion in exon 2 of UGT1A1 gene |
Disease phenotype not characterized. |
| Hereditary tyrosinemia type 1 |
Val166Gly codon substitution in one of fumarylacetoacetate hydrolase (FAH) alleles |
Disease phenotype not characterized. |
| 2
|
Hereditary tyrosinemia type 1 |
FAH protein codon substitution Gln64His |
Disease phenotype not characterized. |
Ghodsizadeh et al. [51]
|
| Glycogen storage disease type 1 a (GSD1a) |
SLC37A gene mutation 1124- 2A>G |
Disease phenotype not characterized. |
| Progressive familial hereditary cholestasis |
Multifactorial |
Disease phenotype not characterized. |
| Crigler-Najjar syndrome |
UGT1A1 protein missense mutation Leu413Pro |
Disease phenotype not characterized. |
| 3 |
Wilson's disease (WD) |
Arg778Leu substitution in ATP7B |
Mislocalization of mutant ATP7B protein and lack of copper transport function in iPSC-hepatocytes. |
Zhang et al. [52] |
