Human fibroblasts cells from a Crigler-Najjar Syndrome (CNS) patient were used to generate integration-free induced pluripotent stem cells (iPSCs) by over-expressing 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.
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http://dx.doi.org/10.1016/j.scr.2021.102167 | DOI Listing |
Mol Ther Methods Clin Dev
December 2024
International Centre for Genetic Engineering and Biotechnology (ICGEB), Padriciano 99, 34149 Trieste, Italy.
Crigler-Najjar syndrome is an ultra-rare monogenic recessive liver disease caused by gene mutations. Complete UGT1A1 deficiency results in severe unconjugated hyperbilirubinemia in newborns that, if not treated, may lead to brain damage and death. Treatment is based on intensive phototherapy, but its efficacy decreases with age, rendering liver transplantation the only curative option.
View Article and Find Full Text PDFInt J Mol Sci
October 2024
Pediatric Clinic, Department of Medicine and Surgery, University Hospital of Parma, 43126 Parma, Italy.
Indian J Pediatr
December 2024
Department of Pediatrics, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India.
Eur J Med Genet
October 2024
Liver Research Center, Beijing Friendship Hospital, Capital Medical University, Beijing, 100050, China. Electronic address:
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