Establishment of an induced pluripotent stem cell line from a patient with CHARGE syndrome carrying a CHD7 (p.L1151Gfs*17) mutation

Shouhuan He; Jintao Hu; Zhong Zheng; Jingjing Wang; Jianling Chen; Cui Zhang; Liang Li; Jiping Wang; Zhengnong Chen; Haibo Shi; Jinfu Wang

Stem Cell Research (May 2020)

Establishment of an induced pluripotent stem cell line from a patient with CHARGE syndrome carrying a CHD7 (p.L1151Gfs*17) mutation

Shouhuan He,
Jintao Hu,
Zhong Zheng,
Jingjing Wang,
Jianling Chen,
Cui Zhang,
Liang Li,
Jiping Wang,
Zhengnong Chen,
Haibo Shi,
Jinfu Wang

Affiliations

Shouhuan He: Department of Otolaryngology, Qingpu Branch of Zhongshan Hospital Affiliated to Fudan University, Shanghai 201700, China
Jintao Hu: The Third Clinical Medical College, Zhejiang Chinese Medical University, Hangzhou 310053, China; Department of Orthopedics, Hangzhou Xiaoshan District Chinese Medicine Hospital, Hangzhou 311200, China
Zhong Zheng: Department of Otolaryngology-Head and Neck Surgery, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai 200233, China; Otolaryngology Institute, Shanghai Jiao Tong University, Shanghai 200233, China
Jingjing Wang: Department of Otolaryngology-Head and Neck Surgery, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai 200233, China; Otolaryngology Institute, Shanghai Jiao Tong University, Shanghai 200233, China
Jianling Chen: Laboratory of Stem Cells, Institute of Cell Biology, College of Life Sciences, Zhejiang University, Hangzhou, Zhejiang 310058, China
Cui Zhang: Laboratory of Stem Cells, Institute of Cell Biology, College of Life Sciences, Zhejiang University, Hangzhou, Zhejiang 310058, China
Liang Li: Laboratory of Stem Cells, Institute of Cell Biology, College of Life Sciences, Zhejiang University, Hangzhou, Zhejiang 310058, China
Jiping Wang: Department of Otolaryngology-Head and Neck Surgery, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai 200233, China; Otolaryngology Institute, Shanghai Jiao Tong University, Shanghai 200233, China; Corresponding authors at: Department of Otolaryngology-Head and Neck Surgery, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai 200233, China.
Zhengnong Chen: Department of Otolaryngology-Head and Neck Surgery, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai 200233, China; Otolaryngology Institute, Shanghai Jiao Tong University, Shanghai 200233, China; Corresponding authors at: Department of Otolaryngology-Head and Neck Surgery, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai 200233, China.
Haibo Shi: Department of Otolaryngology-Head and Neck Surgery, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai 200233, China; Otolaryngology Institute, Shanghai Jiao Tong University, Shanghai 200233, China; Shanghai Key Laboratory of Sleep Disordered Breathing, Shanghai 200233, China
Jinfu Wang: Laboratory of Stem Cells, Institute of Cell Biology, College of Life Sciences, Zhejiang University, Hangzhou, Zhejiang 310058, China

Journal volume & issue: Vol. 45

Abstract

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CHARGE syndrome is a rare disease caused by a genetic disorder. The clinical features of this syndrome include coloboma of the eye, heart anomaly, choanal atresia, retardation of mental and somatic development, microphallus, ear abnormalities and/or deafness. CHD7 is the main causative gene for CHARGE syndrome. In this study, we generated an induced pluripotent stem cell (iPSC) line from the dermal fibroblasts of a 1.5-year-old girl, carrying a de novo mutation (CHD7;NM_017780;c.3449_3450delTC;p.L1151Gfs*17). This iPSC line will be a useful tool for investigating the pathogenesis and for developing treatment for this complicated syndrome.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

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