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Modeling type II collagenopathy skeletal dysplasia by directed conversion and induced pluripotent stem cells

3 Sept 2014

Abstract excerpt

Type II collagen is a major component of cartilage. Heterozygous mutations in the type II collagen gene (COL2A1) result in a group of skeletal dysplasias known as Type II collagenopathy (COL2pathy). The understanding of COL2pathy is limited by difficulties in obtaining live chondrocytes. In the present study, we converted COL2pathy patients' fibroblasts directly into induced chondrogenic (iChon) cells. The...

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PMID: 25187577
DOI: 10.1093/hmg/ddu444

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