Trisomy correction in Down syndrome induced pluripotent stem cells.

@article{Li2012TrisomyCI,
  title={Trisomy correction in Down syndrome induced pluripotent stem cells.},
  author={Li B. Li and Kai-Hsin Chang and Pei-Rong Wang and Roli K. Hirata and Thalia Papayannopoulou and David W. Russell},
  journal={Cell stem cell},
  year={2012},
  volume={11 5},
  pages={
          615-9
        }
}
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The approach highlights the utility of human iPSCs both for functional mapping of disease-associated large-scale chromosomal deletions and for discovery of haploinsufficient genes.
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By reprogramming cells from DS patients, it is possible to obtain new tissue with the same genetic background, offering a valuable tool for studying this genetic disease and to design customized patient-specific stem cell therapies.
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Results demonstrated that trisomy rescue may be a phenomenon with random loss of the extra chromosome and subsequent selection for disomic iPSCs, which is analogous to the karyotype correction in early preimplantation embryos.
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Results provide evidence for a key role for enhanced IGF signaling, involving over-expression of non-chromosome 21 genes controlled by trisomy 21, and are consistent with DS clinical features.
Chromosome Transplantation: Correction of the Chronic Granulomatous Disease Defect in Mouse Induced Pluripotent Stem Cells
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The CT approach is proposed to correct iPSCs from patients affected by other X‐linked diseases with large deletions, whose treatment is still unsatisfactory, and to establish a proof of principle for this approach.
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This review focuses on the analysis of chromosomal abnormalities, including the recurrent aneuploidy; the sources of its origin, the effect of reprogramming, and long-term culture on the accumulation of chromosome aberrations.
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