Using CRISPR/Cas9 to generate a heterozygous COL2A1 p.R719C iPSC line (MCRIi019-A-6) model of human precocious osteoarthritis.
Using CRISPR/Cas9 to generate a heterozygous COL2A1 p.R719C iPSC line (MCRIi019-A-6) model of human precocious osteoarthritis.
复制标题
使用 CRISPR/Cas9 生成人类早熟骨关节炎杂合 COL2A1 p.R719C iPSC 系 (MCRIi019-A-6) 模型。
DOI：
10.1016/j.scr.2023.103020
复制
发表时间：
2023
影响因子：
1.2
通讯作者：
Shoulders,MatthewD
中科院分区：
文献类型：
--
作者：
Yammine,KathrynM;MirdaAbularach,Sophia;Sampurno,Lisa;Bateman,JohnF;Lamandé,ShireenR;Shoulders,MatthewD
The human iPSC line MCRIi019-A-6 was generated using CRISPR/Cas9-mediated gene editing to introduce a heterozygousCOL2A1exon 33 c.2155C>T (p.R719C) mutation into the control human iPSC line MCRIi019-A. Both the edited and parental lines display typical iPSC characteristics, including the expression of pluripotency markers, the ability to be differentiated into the three germ lines, and a normal karyotype. This cell line, along with the isogenic control line, can be used to study the molecular pathology of precocious osteoarthritis in a human model, more broadly understand type II collagenopathies, and explore novel therapeutic targets for this class of diseases.
