CRISPR/Cas9 editing to generate a heterozygous COL2A1 p.G1170S human chondrodysplasia iPSC line, MCRIi019-A-2, in a control iPSC line, MCRIi019-A

Louise H.W. Kung; Lisa Sampurno; Kathryn M. Yammine; Alison Graham; Penny McDonald; John F. Bateman; Matthew D. Shoulders; Shireen R. Lamandé

Stem Cell Research (Oct 2020)

CRISPR/Cas9 editing to generate a heterozygous COL2A1 p.G1170S human chondrodysplasia iPSC line, MCRIi019-A-2, in a control iPSC line, MCRIi019-A

Louise H.W. Kung,
Lisa Sampurno,
Kathryn M. Yammine,
Alison Graham,
Penny McDonald,
John F. Bateman,
Matthew D. Shoulders,
Shireen R. Lamandé

Affiliations

Louise H.W. Kung: Murdoch Children’s Research Institute, Australia
Lisa Sampurno: Murdoch Children’s Research Institute, Australia
Kathryn M. Yammine: Department of Chemistry, Massachusetts Institute of Technology, USA
Alison Graham: Murdoch Children’s Research Institute, Australia
Penny McDonald: Murdoch Children’s Research Institute, Australia
John F. Bateman: Murdoch Children’s Research Institute, Australia; Department of Paediatrics, University of Melbourne, Australia; Corresponding authors at: Murdoch Children’s Research Institute, Parkville, Victoria 3052, Australia (J.F. Bateman); Department of Chemistry, Massachusetts Institute of Technology, 77 Massachusetts Avenue, 16-573A, Cambridge, MA 02139, USA (M.D. Shoulders).
Matthew D. Shoulders: Department of Chemistry, Massachusetts Institute of Technology, USA; Corresponding authors at: Murdoch Children’s Research Institute, Parkville, Victoria 3052, Australia (J.F. Bateman); Department of Chemistry, Massachusetts Institute of Technology, 77 Massachusetts Avenue, 16-573A, Cambridge, MA 02139, USA (M.D. Shoulders).
Shireen R. Lamandé: Murdoch Children’s Research Institute, Australia; Department of Paediatrics, University of Melbourne, Australia

Journal volume & issue: Vol. 48
p. 101962

Abstract

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To develop an in vitro disease model of a human chondrodysplasia, we used CRISPR/Cas9 gene editing to generate a heterozygous COL2A1 exon 50 c.3508 GGT > TCA (p.G1170S) mutation in a control human iPSC line. Both the control and COL2A1 mutant lines displayed typical iPSC characteristics, including normal cell morphology, expression of pluripotency markers, the ability to differentiate into endoderm, ectoderm and mesoderm lineages and normal karyotype. These chondrodysplasia mutant and isogenic control cell lines can be used to explore disease mechanisms underlying type II collagenopathies and aid in the discovery of new therapeutic strategies.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

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