Generation of a Crigler-Najjar Syndrome Type I patient-derived induced pluripotent stem cell line CNS705 (HHUUKDi005-A)

Human fibroblasts cells from a Crigler-Najjar Syndrome (CNS) patient were used to generate integration-free induced pluripotent stem cells (iPSCs) by overexpressing episomal-based plasmids expressing OCT4, SOX2, NANOG, KLF4, c-MYC and LIN28. The derived CNS705-iPSC line is homozygous for the UGT1A1 c.877_890delTACATTAATGCTTCinsA mutation. Pluripotency was confirmed by the expression of associated markers and embryoid body-based differentiation into cell types from all three germ layers. Comparative transcriptome analysis of the iPSC and the human embryonic stem cell line H9 revealed a Pearson's correlation of 0.9468.

Automated summary

Integration-free induced pluripotent stem cells (iPSCs) were generated from human fibroblasts cells of a Crigler-Najjar Syndrome (CNS) patient by overexpressing specific genes. The derived iPSC line showed pluripotency and could differentiate into cell types from all three germ layers. Comparative transcriptome analysis between the iPSC and a human embryonic stem cell line resulted in a high Pearson's correlation coefficient of 0.9468.