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While researchers have a viable means to correct the mutation in these iPS cells, other steps in the development of patient-specific therapeutic stem cells remain problematic. For example, recent studies have found that many mutations arise during reprogramming of somatic cells into iPS cells, a finding that Howden¡¯s team confirmed in their study.
To develop the tissue-specific regenerative capacity of the patient¡¯s cell, researchers rewound the cell into a pluripotent state by overexpressing seven proteins¡ªOCT4, SOX2, NANOG, LIN28, c-Myc, KLF4, and SV40 T-antigen¡ªwhose coding sequences reside on an episomal DNA.
¡°We used the episomal reprogramming methods because the genes carried on episomes are extra-chromosomal which means that they don¡¯t integrate into the chromosome,¡± Howden says. This reprogramming method left the genome intact.
Now Howden and colleagues are obtaining biopsy samples from patients who have an autosomal dominant form of retinal dysfunction, hoping to continue reducing the number of mutations in the development of stem cells for clinical applications.
The paper, ¡°Genetic correction and analysis of induced pluripotent stem cells from a patient with gyrate atrophy,¡± was published 1 March 2011 in Proceedings of the National Academy of Sciences.

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