CRISPR/Cas9 genome editing in human hematopoietic stem cells

Nat Protoc. 2018 Feb;13(2):358-376. doi: 10.1038/nprot.2017.143. Epub 2018 Jan 25.

Abstract

Genome editing via homologous recombination (HR) (gene targeting) in human hematopoietic stem cells (HSCs) has the power to reveal gene-function relationships and potentially transform curative hematological gene and cell therapies. However, there are no comprehensive and reproducible protocols for targeting HSCs for HR. Herein, we provide a detailed protocol for the production, enrichment, and in vitro and in vivo analyses of HR-targeted HSCs by combining CRISPR/Cas9 technology with the use of rAAV6 and flow cytometry. Using this protocol, researchers can introduce single-nucleotide changes into the genome or longer gene cassettes with the precision of genome editing. Along with our troubleshooting and optimization guidelines, researchers can use this protocol to streamline HSC genome editing at any locus of interest. The in vitro HSC-targeting protocol and analyses can be completed in 3 weeks, and the long-term in vivo HSC engraftment analyses in immunodeficient mice can be achieved in 16 weeks. This protocol enables manipulation of genes for investigation of gene functions during hematopoiesis, as well as for the correction of genetic mutations in HSC transplantation-based therapies for diseases such as sickle cell disease, β-thalassemia, and primary immunodeficiencies.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • CRISPR-Cas Systems / physiology
  • Dependovirus
  • Flow Cytometry
  • Gene Editing / methods*
  • Gene Targeting / methods
  • Genetic Therapy / methods
  • Hematopoiesis / genetics
  • Hematopoiesis / physiology
  • Hematopoietic Stem Cell Transplantation / methods*
  • Hematopoietic Stem Cells / metabolism
  • Hematopoietic Stem Cells / physiology*
  • Homologous Recombination / genetics
  • Humans
  • Mice
  • Polymorphism, Single Nucleotide / genetics