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

doi:10.1016/j.scr.2020.101774

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

Stem Cell Res. 2020 May:45:101774. doi: 10.1016/j.scr.2020.101774. Epub 2020 Mar 20.

Authors

Shouhuan He¹, Jintao Hu², Zhong Zheng³, Jingjing Wang³, Jianling Chen⁴, Cui Zhang⁴, Liang Li⁴, Jiping Wang⁵, Zhengnong Chen⁶, Haibo Shi⁷, Jinfu Wang⁴

Affiliations

¹ Department of Otolaryngology, Qingpu Branch of Zhongshan Hospital Affiliated to Fudan University, Shanghai 201700, China.
² The Third Clinical Medical College, Zhejiang Chinese Medical University, Hangzhou 310053, China; Department of Orthopedics, Hangzhou Xiaoshan District Chinese Medicine Hospital, Hangzhou 311200, China.
³ 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.
⁴ Laboratory of Stem Cells, Institute of Cell Biology, College of Life Sciences, Zhejiang University, Hangzhou, Zhejiang 310058, China.
⁵ 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. Electronic address: Tony20040135@aliyun.com.
⁶ 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. Electronic address: jassey@126.com.
⁷ 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.

PMID: 32247258
DOI: 10.1016/j.scr.2020.101774

Abstract

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

CHARGE Syndrome* / genetics
DNA Helicases / genetics
DNA-Binding Proteins / genetics
Female
Humans
Induced Pluripotent Stem Cells*
Infant
Mutation

Substances

DNA-Binding Proteins
DNA Helicases
CHD7 protein, human