Johanson-Blizzard syndrome (JBS) is an autosomal recessive disorder. We established an induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells of a 2-year-old boy with Johanson-Blizzard syndrome carrying a compound heterozygous mutation of c.3167C>G (p.S1056X) and c.1911 + 14C>G(splicing) in the UBR1 gene. This iPSC line was free of exogenous gene, expressed stemness markers, exhibited differentiation potential, had normal karyotype and harbored the same mutations found in the patient. The iPSC cellline can serve as a disease model in drug development and novel personalized therapies.
Keyphrases
- case report
- stem cells
- induced pluripotent stem cells
- high glucose
- genome wide
- copy number
- endothelial cells
- diabetic rats
- early onset
- genome wide identification
- epithelial mesenchymal transition
- dna methylation
- drug induced
- gene expression
- transcription factor
- risk assessment
- climate change
- signaling pathway
- mesenchymal stem cells
- human health
- stress induced