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

A novel COL2A1 mutation causing spondyloepiphyseal dysplasia congenita in a Chinese family

“…In our case, we found that the mutation results in substitution of glycine for arginine at amino acid position 813 (p. Gly813Arg) in the triple helix region of type II collagen, which is very rare among study the pathogenesis of SEDC and gene rescue of COL2A1 mutation. 10 However, further basic research is needed. In addition, we plan to conduct a retrospective case-control study on SEDC including the diagnosis of SEDC, genetic and bioinformatic analyses, and surgical or non-surgical treatment, in order to advance the clinical research on the disease.…”

“…As far as the current technology is concerned, early diagnosis and early intervention can be achieved. The CRISPR/cas9 gene editing technology was used in iPSC cells to study the pathogenesis of SEDC and gene rescue of COL2A1 mutation 10 . However, further basic research is needed.…”

ER procollagen storage defect without coupled unfolded protein response drives precocious arthritis

“…The inherent ability of stem cells to proliferate makes these systems highly expandable and thus much more amenable for biochemistry and drug discovery than mouse models. Methods for producing cartilage in vitro in the correct developmental context, combined with gene editing technology to create genetically matched cell lines incorporating disease-causing mutations (Hosseini Far et al, 2019; Howden et al, 2019; Kung et al, 2020; Lilianty et al, 2021; Lilianty et al, 2020; Yammine et al, 2023), provide an exceedingly promising avenue for modeling, studying, and discovering potential therapies for genetic skeletal disorders, including the type-II collagenopathies.…”