Generation of fibroblast-derived induced pluripotent stem cell (iPSC) lines from two paediatric patients with phenylketonuria

Abstract

Phenylketonuria is a rare autosomal recessive metabolic disorder mainly due to a significant reduction in the enzyme phenylalanine hydroxylase, resulting in elevation of phenylalanine in the blood. Here, we have established two fibroblast-derived induced pluripotent stem cell lines using Sendai virus-based reprogramming. The established induced pluripotent stem cell lines exhibited a normal karyotype and expressed markers of pluripotency assessed through quantitative PCR, flow cytometry and immunocytochemistry. These cell lines also demonstrated the ability to differentiate into the three primary germ layers of the human body, including ectoderm, endoderm, and mesoderm.

Keywords

• Phenylketonuria
• PKU
• Induced pluripotent stem cells
• iPSCs
• High throughput drug screening
• PKU biobank