Ontology highlight
ABSTRACT:
SUBMITTER: Wu Y
PROVIDER: S-EPMC4705535 | biostudies-literature | 2016 Jan
REPOSITORIES: biostudies-literature
Wu Yong Y Hu Zhiqing Z Li Zhuo Z Pang Jialun J Feng Mai M Hu Xuyun X Wang Xiaolin X Lin-Peng Siyuan S Liu Bo B Chen Fangping F Wu Lingqian L Liang Desheng D
Scientific reports 20160108
Nearly half of severe Hemophilia A (HA) cases are caused by F8 intron 22 inversion (Inv22). This 0.6-Mb inversion splits the 186-kb F8 into two parts with opposite transcription directions. The inverted 5' part (141 kb) preserves the first 22 exons that are driven by the intrinsic F8 promoter, leading to a truncated F8 transcript due to the lack of the last 627 bp coding sequence of exons 23-26. Here we describe an in situ genetic correction of Inv22 in patient-specific induced pluripotent stem ...[more]