CRISPR/Cas9-generated p47^phox-deficient cell line for Chronic Granulomatous Disease gene therapy vector development.

ABSTRACT: Development of gene therapy vectors requires cellular models reflecting the genetic background of a disease thus allowing for robust preclinical vector testing. For human p47^phox-deficient chronic granulomatous disease (CGD) vector testing we generated a cellular model using clustered regularly interspaced short palindromic repeats (CRISPR)/Cas9 to introduce a GT-dinucleotide deletion (ΔGT) mutation in p47^phox encoding NCF1 gene in the human acute myeloid leukemia PLB-985 cell line. CGD is a group of hereditary immunodeficiencies characterized by impaired respiratory burst activity in phagocytes due to a defective phagocytic nicotinamide adenine dinucleotide phosphate (NADPH) oxidase. In Western countries autosomal-recessive p47^phox-subunit deficiency repre

SUBMITTER: Wrona D 

PROVIDER: S-EPMC5347011 | biostudies-literature | 2017 Mar

REPOSITORIES: biostudies-literature