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

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

doi:10.1016/j.scr.2021.102353

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

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

Shandong University

科研成果: 期刊稿件 › 文章 › 同行评审

摘要

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.

源语言	英语
文章编号	102353
期刊	Stem Cell Research
卷	53
DOI	https://doi.org/10.1016/j.scr.2021.102353
出版状态	已出版 - 5月 2021
已对外发布	是

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10.1016/j.scr.2021.102353

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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.",

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AU - Sun, Wenjie

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AB - 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.

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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

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