Journal article

Simultaneous reprogramming and gene editing of human fibroblasts

SE Howden, JA Thomson, MH Little

Nature Protocols | NATURE PUBLISHING GROUP | Published : 2018

Abstract

The utility of human induced pluripotent stem cells (iPSCs) is enhanced by an ability to precisely modify a chosen locus with minimal impact on the remaining genome. However, the derivation of gene-edited iPSCs typically involves multiple steps requiring lengthy culture periods and several clonal events. Here, we describe a one-step protocol for reliable generation of clonally derived gene-edited iPSClines from human fibroblasts in the absence of drug selection or FACSenrichment. Using enhanced episomal-based reprogramming and CRISPR/Cas9 systems, gene-edited and passage-matched unmodified iPSClines are obtained following a single electroporation of human fibroblasts. To minimize unwanted mu..

View full abstract

University of Melbourne Researchers

Grants

Awarded by National Institutes of Health


Funding Acknowledgements

We acknowledge A. Mallett, Royal Brisbane and Women's Hospital; C. Patel, Genetic Health Queensland; C. Simons and J. Crawford, University of Queensland; B. Bennetts, G. Ho, and K. Holman, Childrens Hospital Westmead; and A. Nandini and team, Pathology Queensland, acting as part of the KidGen Collaborative; for clinical and genetic evaluation, mutation identification, and recruitment of fibroblasts from RG_0120.153 (patient with HNF4A mutation). This work was supported by the National Institutes of Health (DK107344-01) and the National Health and Medical Research Council (NHMRC; GNT1098654 and GNT1100970). M. H. L. is a Senior Principal Research Fellow of the NHMRC (GNT1042093). The Murdoch Children's Research Institute is supported by the Victorian Government's Operational Infrastructure Support Program.