The Generation of an Induced Pluripotent Stem Cell Line from a Patient with Phenylketonuria

초록

Phenylketonuria (PKU), an autosomal recessive genetic disorder, has been documented to exhibit over 950 distinct mutations. This condition primarily affects the metabolism of phenylalanine, which is affected by a deficiency in the hepatic enzyme phenylalanine hydroxylase. The optimal treatment for PKU disease remains to be determined, necessitating further research. The severity of the disease and the most effective treatment method vary depending on the specific mutation, which necessitates the development of personalized treatment strategies. In this study, we successfully established induced pluripotent stem cell (iPSC) lines from the blood of a PKU patient with the R243Q mutation via Sendai virus-based reprogramming (R243Q-iPSCs). The established R243Q-iPSCs exhibited characteristics of pluripotency, as confirmed through quantitative reverse transcription polymerase chain reaction, western blot, immunocytochemistry, and karyotype analysis. Furthermore, these iPSCs not only successfully differentiated into hepatocytes but also exhibited a complete PKU disease phenotype. These results provide a valuable foundation for PKU disease research, including physiological studies of PKU, gene therapy, drug screening, and the development of platforms for novel cell therapy approaches.

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