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


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. Copyright © 2021. Published by Elsevier B.V.

Authors Long F, Liu X, Liu Y, Liu Q, Sun W
Journal Stem cell research
Publication Date 2021 May;53:102353
PubMed 33892290
DOI 10.1016/j.scr.2021.102353

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