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    mutation tagged posts

    For 1st time, Chromosomal Defects in Hemophilia have been Corrected in patient-specific iPSCs using CRISPR-Cas9 nucleases

    July 25, 2015, Categories  Biology/Biotechnology, Health/Medical

    CRISPR-Cas9 and targeted sgRNAs can revert large inversions in hemophilia A iPSCs •Endothelial cells derived from corrected iPSCs express correctly spliced Factor VIII •Transplantation of corrected iPSCs can rescue injury mortality in hemophiliac mice •Whole-genome and targeted deep sequencing did not detect off-target mutations Credit: Chul-Yong Park, Duk Hyoung Kim, Jeong Sang Son, Jin Jea Sung, Jaehun Lee, Sangsu Bae, Jong-Hoon Kim, Dong-Wook Kim, Jin-Soo Kim. Functional Correction of Large Factor VIII Gene Chromosomal Inversions in Hemophilia A Patient-Derived iPSCs Using CRISPR-Cas9. Cell Stem Cell, 2015; DOI:

    CRISPR-Cas9 and targeted sgRNAs can revert large inversions in hemophilia A iPSCs •Endothelial cells derived from corrected iPSCs express correctly spliced Factor VIII •Transplantation of corrected iPSCs can rescue injury mortality in hemophiliac mice •Whole-genome and targeted deep sequencing did not detect off-target mutations Credit: Chul-Yong Park, Duk Hyoung Kim, Jeong Sang Son, Jin Jea Sung, Jaehun Lee, Sangsu Bae, Jong-Hoon Kim, Dong-Wook Kim, Jin-Soo Kim. Functional Correction of Large Factor VIII Gene Chromosomal Inversions in Hemophilia A Patient-Derived iPSCs Using CRISPR-Cas9. Cell Stem Cell, 2015; DOI:

    Hemophilia A occurs in about 1 in 5,000 male births and almost half of severe cases are caused by identified “chromosomal inversions” involving introns 1 and 22 of the F...

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