Generation of a CRISPR/Cas9-corrected isogenic control iPSC line (NIMHi001-A-1) from a Parkinson's disease Patient-Derived iPSC line carrying the LRRK2 I1371V mutation.

Prime Editing Corrects the HBB Codon 8/9 (+G) Mutation in Patient-Derived Induced Pluripotent Stem Cells and Restores β-Globin Expression in iPSC-Derived Erythroid Cells

Background Homozygosity for the HBB codon 8/9 (+G) frameshift (c.27dup (p.Ser10ValfsTer14)) causes transfusion-dependent β⁰-thalassaemia and is common in South Asia. Prime editing can reverse this insertion without double-strand breaks or donor DNA, but its efficiency depends on pegRNA design. Methods We derived Sendai...

Generation and characterization of a human iPSC line (XACHi022-A) derived from an asymptomatic carrier of the GAA c.2051C > A (p.P684Q) variant.

Pompe disease is a lysosomal-store age disorder with GAA mutation. We collected a Pompe disease family with c.2051C > A (p.P684Q) and c.2024_2026 delACA (p. N675del) variants in GAA. In this study, we generated a human induced pluripotent stem cell (iPSC) line from an asymptomatic woman carrying c.2051C > A (p.P684Q) v...

Lab Resource: Genetically-Modified Multiple Cell Lines Generation of retinitis pigmentosa patient-derived hiPSC lines (IDVi007-A, IDVi007-B) carrying the RHO c.68C > A variant (p.P23H) and CRISPR/ Cas9-corrected isogenic hiPSC lines (IDVi007-A-1, IDVi007-A-2, IDVi007-A-3)

From Design to Single-Cell Cloning: A Complete RNP-Based CRISPR-Cas9 Protocol for Precision Gene Correction in Human iPSCs.

A systematic, comprehensive and efficient workflow combining generation, genotyping and expansion of high-quality monoclonal iPSC lines following CRISPR-Cas9 genome editing, which provides a robust and high-throughput framework for the reliable production of monoclonal genome-edited iPSCs, thereby advancing translation...

CRISPR/Cas9‐Mediated Correction of the SLC25A38 Mutation in a Patient With Sideroblastic Anemia

ABSTRACT Background The SLC25A38 is one of the genes of the heme biosynthesis pathway and disruptive alterations therein cause autosomal recessive congenital sideroblastic anemia (CSA). Primary patient‐derived fibroblasts can be used as a valuable source for disease modeling, cell therapy studies, and the generation of...

Homology-directed CRISPR-Cas9 correction of the KRT5 p.E475G mutation in human iPSC line from a patient with severe epidermolysis bullosa simplex.

The generation of the human induced pluripotent stem cell line MLi002-A-1 is reported, an isogenic control derived from patient-specific MLi002-A line carrying the KRT5 c.1424A > G (p.E475G) mutation, which enables mutation-specific studies and in vitro modeling of epidermolysis bullosa simplex.