Engineering of targeted megabase-scale deletions in human iPSCs

Recurrent chromosomal deletions are frequently associated with human diseases. Hematologic malignancies, in particular, often harbor focal deletions, most commonly at hemizygous state. These may drive disease by providing one of two hits towards complete gene inactivation or through haploinsufficiency of one or more genes. Deletion of the long arm of chromosome 7q (del7q) is a common cytogenetic abnormality in patients with hematologic malignancies, particularly myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML).

Source: Experimental Hematology - June 11, 2020 Category: Hematology Authors: Andriana G Kotini, Eirini P Papapetrou Source Type: research