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Akademický článek

CRISPR/Cas9 mediated generation of a iPSC line EHTJUi005-A-1 with homozygous knockout of the SUV39H1 gene

Autor: Zhi-Bin Qiao, Ji-Zhen Lu, Lu Zhang, Hong-Xia Cao, Zhi-Hui Bai, Yi-Yao Qi, Han-Yu Zhu, Shou-Mei Zhang, Yan Bao, Wen-Wen Jia, Zhong-Min Liu

Publikováno v: Stem Cell Research, Vol 56, Iss , Pp 102519- (2021)

SUV39H1 is a histone methyltransferase involve numerous biological processes, including of aging, embryo development, tumor growth and mitosis via catalysis of dimethylation and trimethylation of lysine 9 of histone H3. Here we report a human induced

Externí odkaz: https://doaj.org/article/046332ec6b5c4e4093d5785cb247f21a

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Akademický článek

Generation of a laminopathies-specific iPSC line EHTJUi005-A-3 with homozygous knockout of the LMNA gene by CRISPR/Cas9 technology

Autor: Ji-Zhen Lu, Zhi-Bin Qiao, Lu Zhang, Hong-Xia Cao, Zhi-Hui Bai, Yi-Yao Qi, Han-Yu Zhu, Ya-Qi Chen, Shou-Mei Zhang, Xiu-Hua Yan, Yan Bao, Wen-Wen Jia, Zhong-Min Liu

Publikováno v: Stem Cell Research, Vol 56, Iss , Pp 102530- (2021)

LAMIN A/C, encoded by the LMNA gene, supports the normal structure of the cell nucleus and regulates the connection between the nucleus and the cytoskeleton as a component of the nucleus envelope. The loss of expression and function of the LMNA gene

Externí odkaz: https://doaj.org/article/ccf4aa14cea6478f840b2670f2437f48

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Akademický článek

An induced pluripotent stem cell line (EHTJUi003-A) generated from a neonate with c.1377delC mutation in the gene MYBPC3 causing hypertrophic cardiomyopathy

Autor: Wen-Wen Jia, Ji-Zhen Lu, Lu Zhang, Hong-Xia Cao, Yi-Yao Qi, Han-Yu Zhu, Zhi-Hui Bai, Shou-Mei Zhang, Zhi-Bin Qiao, Yan Bao, Zhong-Min Liu

Publikováno v: Stem Cell Research, Vol 53, Iss , Pp 102328- (2021)

Hypertrophic cardiomyopathy (HCM) is an autosomal dominant heart disease. An induced pluripotent stem cell line (EHTJUi003-A) was generated from umbilical cord blood mononuclear cells (UCBMCs) of a female neonate with heterozygous mutation of p.L460W

Externí odkaz: https://doaj.org/article/566e981ff8484463b1a26ae8a380a158

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Akademický článek

An induced pluripotent stem cell line (EHTJUi004-A) generated from a neonate with c.4683_4684delCT:p.Leu1563fs mutation in the gene DSP causing Familial Arrhythmogenic Right Ventricular Dysplasia (ARVD)

Autor: Yi-Yao Qi, Ji-Zhen Lu, Lu Zhang, Hong-Xia Cao, Han-Yu Zhu, Zhi-Hui Bai, Shou-Mei Zhang, Zhi-Bin Qiao, Wen-Wen Jia, Zhong-Min Liu

Publikováno v: Stem Cell Research, Vol 53, Iss , Pp 102369- (2021)

Familial Arrhythmogenic Right Ventricular Dysplasia (ARVD) is a primary cardiomyopathy characterized by the abnormality of the right ventricular muscle. ARVD may be life-threatening due to the induction of paroxysmal refractory ventricular tachycardi

Externí odkaz: https://doaj.org/article/2f02d3b8a9f64bc6948fdee1f5b830e5

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Akademický článek

An induced pluripotent stem cell line (EHTJUi002-A) derived from a neonate with c.678G>A mutation in the gene FZD4 causing exudative vitreoretinopathy

Autor: Ji-Zhen Lu, Lu Zhang, Han-yu Zhu, Yi-yao Qi, Zhi-hui Bai, Wen-Wen Jia, Zhong-Min Liu

Publikováno v: Stem Cell Research, Vol 48, Iss , Pp 101932- (2020)

Familial exudative vitreoretinopathy (FEVR) is an autosomal dominant genetic disease. An induced pluripotent stem cell line (EHTJUi002-A) was generated from umbilical cord blood mononuclear cells (UCBMCs) of a neonate with heterozygous mutation of p.

Externí odkaz: https://doaj.org/article/cbf58f9db52f410394e2cf25f54ad29c

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