Study

Analysis_of_genomic_integrity_of_disease_corrected_human_induced_pluripotent_stem_cells_by_exome_sequencing

Study ID Alternative Stable ID Type
EGAS00001000055 Other

Study Description

Induced pluripotent stem (iPS) cells hold great promise for autologous cell transplantation. In order to apply this therapy to monogenic disorder, disease-causing mutations must be corrected prior to transplantation. We generated iPS cells from patients with alpha-1 antitrypsin deficiency, which is caused by homozygous non-synonymous mutation in the SERPINA1 gene. In vitro differentiation of patient-derived iPS cells to hepatocytes showed recapitulation of the disease phenotype. We corrected the mutations by gene targeting using zinc finger nuclease (ZFN) and piggyBac transposon technologies. Our mutation correction is highly accurate. There is no exogenous sequence left behind at the targeted site. The corrected iPS cell-derived hepatocytes were indistinguishable from healthy hepatocyte, suggesting that the corrected gene was fully functional. The genomic integrity was also analyzed by CGH and SNP array, showing no genomic alterations. These are important points to ensure clinical safety as well as functional restoration of the corrected gene. One remaining question is if these ... (Show More)

Study Datasets 2 datasets.

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Dataset ID Description Technology Samples
EGAD00001000030
Analysis of genomic integrity of disease-corrected human induced pluripotent stem cells by exome sequencing
Illumina HiSeq 2000 4
EGAD00001000086
Analysis of genomic integrity of disease-corrected human induced pluripotent stem cells by exome sequencing
Illumina HiSeq 2000 16

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