Using CRISPR/Cas9 to generate a heterozygous COL2A1 p.R719C iPSC line (MCRIi019-A-6) model of human precocious osteoarthritis von Yammine, Kathryn M., Mirda Abularach, Sophia, Sampurno, Lisa, Bateman, John F., Lamandé, Shireen R., Shoulders, Matthew D.

Volltext

CRISPR/Cas9 editing to generate a heterozygous COL2A1 p.G1170S human chondrodysplasia iPSC line, MCRIi019-A-2, in a control iPSC line, MCRIi019-A von Kung, Louise H.W., Sampurno, Lisa, Yammine, Kathryn M., Graham, Alison, McDonald, Penny, Bateman, John F., Shoulders, Matthew D., Lamandé, Shireen R.

Volltext

An outcome-defining role for the triple-helical domain in regulating collagen-I assembly von Yammine, Kathryn M, Li, Rasia C, Borgula, Isabella M, Mirda Abularach, Sophia, DiChiara, Andrew S, Raines, Ronald T, Shoulders, Matthew D

Volltext

ER procollagen storage defect without coupled unfolded protein response drives precocious arthritis von Yammine, Kathryn M, Mirda Abularach, Sophia, Kim, Seo-Yeon, Bikovtseva, Agata A, Lilianty, Jinia, Butty, Vincent L, Schiavoni, Richard P, Bateman, John F, Lamandé, Shireen R, Shoulders, Matthew D

Volltext