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CRISPR/Cas9 editing to generate a heterozygous COL2A1 p.G1170S human chondrodysplasia iPSC line, MCRIi019-A-2, in a control iPSC line, MCRIi019-A
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1-s2.0-S1873506120302634-main.pdf
Description
Published version
Size
2.7 MB
Format
Adobe PDF
Checksum (MD5)
7e9462f751bdd280872842cf36ff3d04
Author(s)
Kung, Louise HW
Sampurno, Lisa
Yammine, Kathryn M
Graham, Alison
McDonald, Penny
Bateman, John F
Shoulders, Matthew D
Lamandé, Shireen R
Date Issued
2020
Journal
Stem Cell Research
Publisher
Elsevier BV
Citation
Kung, Louise HW, Sampurno, Lisa, Yammine, Kathryn M, Graham, Alison, McDonald, Penny et al. 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." Stem Cell Research, 48.
Version
Final published version
Abstract
© 2020 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.
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Creative Commons Attribution-NonCommercial-NoDerivs License
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DOI of Published Version
10.1016/J.SCR.2020.101962
