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

Stem cell research - 1 May 2021

Long Feng, Liu Xiaolin, Liu Yong, Liu Qiji, Sun Wenjie

Abstract excerpt

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...

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Identifiers

PMID: 33892290
DOI: 10.1016/j.scr.2021.102353

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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