Extended Data Table 1:
Characterization of human subjects and samples.
| Human subject | Gender | ALGS genotype | ALGS phenotype | Age at liver analysis | Liver samples |
|---|---|---|---|---|---|
| ALGS patient | Male | Heterozygous JAG1 exon 1–26 deletion | Neonatal cholestasis, bile duct paucity, liver fibrosis, portal hypertension, hepatocellular carcinoma, liver transplantation; left pulmonary artery stenosis; butterfly vertebrae; facial features | 3 years | Regenerative nodule and nonregenerated tissue (segment 5 of right lobe and segment 8 of right lobe of explanted liver, respectively) |
| ALGS patient | Male | Heterozygous JAG1 exon 4 mutation (c.499T>A; p.W167R) | Failure to thrive; hepatomegaly, bile duct paucity, cholestasis, liver fibrosis; left pulmonary artery stenosis; facial features | 15 years | Regenerative nodule and nonregenerated tissue (biopsies of segment 3 of left liver lobe and segment 5 of right liver lobe, respectively) |
| Normal control | Male | Normal JAG1 and N0TCH2 sequences | None | 35 years | Histologically normal tissue (resection of segment 4 of left liver lobe for metastasis of rectal adenocarcinoma) |