Related Experiment Video
Updated: Jan 15, 2026

Genome Editing and Directed Differentiation of hPSCs for Interrogating Lineage Determinants in Human Pancreatic Development
Published on: March 5, 2017
Generation of iPSC and isogenic gene-corrected lines from a patient with RPS7 (c.277_279delGTC)-mutated
Shruthi Suryaprakash1, Yan Ju2, James P Papizan3
1Department of Bone Marrow Transplantation and Cellular Therapy, St. Jude Children's Research Hospital, Memphis, TN, USA.
Abstract:
Diamond-Blackfan anemia syndrome (DBAS) is a heterogeneous genetic bone marrow failure disorder characterized by erythroid hypoplasia in young children. Most forms of DBAS are caused by heterozygous loss-of-function mutations in one of the 24 different ribosomal protein genes. We generated an iPSC line from a patient with a heterozygous RPS7 (c.277_279delGTC) mutation, along with a corresponding isogenic cell line wherein the mutation was corrected using Cas9-mediated homology-directed repair.
Related Concept Videos
iPS Cell Differentiation
EPS and iPS Cells in Disease Research

