Generation of a heterozygous COL2A1 (p.R989C) spondyloepiphyseal dysplasia congenita mutation iPSC line, MCRIi001-B, using CRISPR/Cas9 gene editing


To produce an in vitro model of the human chondrodysplasia, spondyloepiphyseal dysplasia congenita, we used CRISPR/Cas9 gene editing to generate a heterozygous patient COL2A1 mutation in an established control human iPSC line. The gene-edited heterozygous COL2A1 p.R989C line had a normal karyotype, expressed pluripotency markers, and could differentiate into cells representative of the three embryonic germ layers. When differentiated into cartilage this cell line and the parental isogenic control may be used to explore disease mechanisms and evaluate therapeutic approaches. Crown Copyright © 2020. Published by Elsevier B.V. All rights reserved.

Authors Lilianty J, Nur Patria Y, Stanley EG, Elefanty AG, Bateman JF, Lamandé SR
Journal Stem cell research
Publication Date 2020 May;45:101843
PubMed 32446218
DOI 10.1016/j.scr.2020.101843

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