Identification of a family with van der Hoeve\'s syndrome harboring a novel COL1A1 mutation and generation of patient-derived iPSC lines and CRISPR/Cas9-corrected isogenic iPSCs - 成果

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Identification of a family with van der Hoeve's syndrome harboring a novel COL1A1 mutation and generation of patient-derived iPSC lines and CRISPR/Cas9-corrected isogenic iPSCs

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成果类型：

期刊论文

作者：

Li, SiJun;Mei, Lingyun;He, Chufeng;Cai, Xinzhang;Wu, Hong;...

通讯作者：

Feng, Yong;Song, J;Feng, Y

作者机构：

[Li, SiJun; Mei, Lingyun; Feng, Yong; Song, Jian; Feng, Y; He, Chufeng; Cai, Xinzhang; Wu, Hong; Wu, XueWen; Liu, Yalan] Cent South Univ, Xiangya Hosp, Dept Otolaryngol Head & Neck Surg, Changsha, Hunan, Peoples R China.

[Feng, Yong; Feng, Y] Univ South China, Affiliated Maternal & Child Hlth Hosp Hunan Prov, Hengyang Med Sch, Dept Otorhinolaryngol, Changsha, Hunan, Peoples R China.

[Li, SiJun; Mei, Lingyun; Song, Jian; He, Chufeng; Cai, Xinzhang; Wu, Hong; Wu, XueWen; Liu, Yalan] Otolaryngol Major Dis Res Key Lab Hunan Prov, Changsha, Hunan, Peoples R China.

[Li, SiJun; Mei, Lingyun; He, Chufeng; Cai, Xinzhang; Wu, Hong; Wu, XueWen; Liu, Yalan] Clin Res Ctr Pharyngolaryngeal Dis & Voice Disord, Changsha, Hunan, Peoples R China.

[Feng, Yong; Feng, Y] Univ South China, Key Lab Rare Pediat Dis, MOE, Changsha, Hunan, Peoples R China.

通讯机构：

[Song, J ; Feng, Y] C

[Feng, Y ] U

Cent South Univ, Xiangya Hosp, Dept Otolaryngol Head & Neck Surg, Changsha, Hunan, Peoples R China.

Univ South China, Affiliated Maternal & Child Hlth Hosp Hunan Prov, Hengyang Med Sch, Dept Otorhinolaryngol, Changsha, Hunan, Peoples R China.

Otolaryngol Major Dis Res Key Lab Hunan Prov, Changsha, Hunan, Peoples R China.

语种：

英文

关键词：

COL1A1;CRISPR/Cas9;Hearing loss;Osteogenesis imperfecta;iPSC

期刊：

Human Cell

ISSN：

1749-0774

年：

2024

卷：

期：

页码：

817-831

DOI：

10.1007/s13577-024-01028-3

基金类别：

The reported study was supported by National Natural Science Foundation of China (Grant no. 82071065); the Major State Basic Research Development Program of China (973 Program) (Grant no. 2014CB541702); the National Key Research and Development Program of China (Grant no. 2020YFC2005204); the Hunan Provincial Key Research and Development Program (Grant no. 2020SK2106); the Startup Project of University of South China (Grant no. 201RGC002); the Fundamental Research Funds for the Central Universities of Central South University, China (Grant no. 2021zzts0345; CX20210355); China Postdoctoral Science Foundation (Grant nos. 2021M693566, 2021T140751); the science and technology innovation Program of Hunan Province China (Grant nos. 2020RC2013); Hunan Province Natural Science Foundation (Grant nos. 2021JJ41017, 2021JJ31084); the Foundation of Hunan Provincial Health Commission (no. 202107010047).

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本校为通讯机构

摘要：

Van der Hoeve's syndrome, also known as osteogenesis imperfecta (OI), is a genetic connective tissue disorder characterized by fragile, fracture-prone bone and hearing loss. The disease is caused by a gene mutation in one of the two type I collagen genes COL1A1 or COL1A2. In this study, we identified a novel frameshift mutation of the COL1A1 gene (c.1607delG) in a family with OI using whole-exome sequencing, bioinformatics analysis and Sanger sequencing. This mutation may lead to the deletion of a portion of exon 23 and the generation of a premature stop codon in the COL1A1 gene. To further in...

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Identification of a family with van der Hoeve's syndrome harboring a novel COL1A1 mutation and generation of patient-derived iPSC lines and CRISPR/Cas9-corrected isogenic iPSCs

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