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,...

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Bibliographic Details
Main Authors: Jinia Lilianty, Yudha Nur Patria, Edouard G. Stanley, Andrew G. Elefanty, John F. Bateman, Shireen R. Lamandé
Format: Article
Language:English
Published: Elsevier 2020-05-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506120301446