An iPS cell line SDUBMSi0011-A from a multiple epiphyseal dysplasia patient carrying c. 1076T > G mutation in the SMOC2 gene

Abstract

SMOC2 gene encodes a modular extracellular protein and its mutation causes multiple epiphyseal dysplasia (MED) which characterized by short stature and osteoarthritis. Here, we generated an induced pluripotent stem cell line from a MED patient with c. 1076T > G transition mutation in SMOC2 gene. The iPSCs line has a normal male karyotype and the same mutation as the MED patient. It also expresses pluripotent markers and can differentiate into the three germ layers.