Generation of heterozygous (MCRIi031-A-1) and homozygous (MCRIi031-A-2) SOX9 knockout human iPSC lines

Svenja Pachernegg; Gorjana Robevska; Lucas G. A. Ferreira; Jocelyn A. van den Bergen; Katerina Vlahos; Sara E. Howden; Andrew H. Sinclair; Katie L. Ayers

Stem Cell Research (Sep 2024)

Generation of heterozygous (MCRIi031-A-1) and homozygous (MCRIi031-A-2) SOX9 knockout human iPSC lines

Svenja Pachernegg,
Gorjana Robevska,
Lucas G. A. Ferreira,
Jocelyn A. van den Bergen,
Katerina Vlahos,
Sara E. Howden,
Andrew H. Sinclair,
Katie L. Ayers

Affiliations

Svenja Pachernegg: Reproductive Development, Murdoch Children’s Research Institute, Melbourne, Australia; Department of Paediatrics, The University of Melbourne, Melbourne, Australia
Gorjana Robevska: Reproductive Development, Murdoch Children’s Research Institute, Melbourne, Australia
Lucas G. A. Ferreira: Reproductive Development, Murdoch Children’s Research Institute, Melbourne, Australia; Laboratory of Molecular and Translational Endocrinology, Universidade Federal de Sao Paulo, Sao Paulo, Brazil
Jocelyn A. van den Bergen: Reproductive Development, Murdoch Children’s Research Institute, Melbourne, Australia
Katerina Vlahos: iPSC Derivation and Gene Editing Facility, Murdoch Children’s Research Institute, Melbourne, Australia
Sara E. Howden: Department of Paediatrics, The University of Melbourne, Melbourne, Australia; iPSC Derivation and Gene Editing Facility, Murdoch Children’s Research Institute, Melbourne, Australia; Novo Nordisk Foundation Center for Stem Cell Medicine (reNEW), Murdoch Children's Research Institute, Melbourne, Australia
Andrew H. Sinclair: Reproductive Development, Murdoch Children’s Research Institute, Melbourne, Australia; Department of Paediatrics, The University of Melbourne, Melbourne, Australia
Katie L. Ayers: Reproductive Development, Murdoch Children’s Research Institute, Melbourne, Australia; Department of Paediatrics, The University of Melbourne, Melbourne, Australia; Corresponding author at: Reproductive Development Group, Murdoch Children’s Research Institute, Melbourne, Australia..

Journal volume & issue: Vol. 79
p. 103484

Abstract

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The transcription factor SOX9 plays a critical role in several embryonic developmental processes such as gonadogenesis, chrondrogenesis, and cardiac development. We generated heterozygous (MCRIi031-A-1) and homozygous (MCRIi031-A-2) SOX9 knockout induced pluripotent stem cell (iPSC) lines from human fibroblasts using a one-step protocol for CRISPR/Cas9 gene-editing and episomal-based reprogramming. Both iPSC lines exhibit a normal karyotype and morphology, express pluripotency markers, and have the capacity to differentiate into the three embryonic germ layers. These cell lines will allow us to further explore the role of SOX9 in critical developmental processes.

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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