Establishment of iPS cell line (KLRMMEi003-A) from a patient with Usher syndrome due to USH2A mutation

Luyin Chen; Jianing Wang; Tingting Yang; Linyao Xie; Zekai Cui; Quan Yu; Jingxiang Zhong; Hon fai Chan; Yunxia Xue; Yonglong Guo; Jiansu Chen

Stem Cell Research (Apr 2023)

Establishment of iPS cell line (KLRMMEi003-A) from a patient with Usher syndrome due to USH2A mutation

Luyin Chen,
Jianing Wang,
Tingting Yang,
Linyao Xie,
Zekai Cui,
Quan Yu,
Jingxiang Zhong,
Hon fai Chan,
Yunxia Xue,
Yonglong Guo,
Jiansu Chen

Affiliations

Luyin Chen: Ophthalmology Department, The First Affiliated Hospital of Jinan University, Guangzhou, China
Jianing Wang: Ophthalmology Department, The First Affiliated Hospital of Jinan University, Guangzhou, China
Tingting Yang: Ophthalmology Department, The First Affiliated Hospital of Jinan University, Guangzhou, China
Linyao Xie: Ophthalmology Department, The First Affiliated Hospital of Jinan University, Guangzhou, China
Zekai Cui: Aier Eye Institute, 18th Floor, the New Century Building, #198 Furong Middle Road, Changsha 410015 Hunan, China
Quan Yu: Centric Laboratory, Medical College, Jinan University, Guangzhou, China
Jingxiang Zhong: Ophthalmology Department, The First Affiliated Hospital of Jinan University, Guangzhou, China; Institute of Ophthalmology, Medical College, Jinan University, Guangzhou 510632, China
Hon fai Chan: Institute for Tissue Engineering and Regenerative Medicine, The Chinese University of Hong Kong, Hong Kong, China
Yunxia Xue: Ophthalmology Department, The First Affiliated Hospital of Jinan University, Guangzhou, China; Institute of Ophthalmology, Medical College, Jinan University, Guangzhou 510632, China; Corresponding authors.
Yonglong Guo: College of Veterinary Medicine, South China Agricultural University, Guangzhou, China; Corresponding authors.
Jiansu Chen: Ophthalmology Department, The First Affiliated Hospital of Jinan University, Guangzhou, China; Institute of Ophthalmology, Medical College, Jinan University, Guangzhou 510632, China; Aier Eye Institute, 18th Floor, the New Century Building, #198 Furong Middle Road, Changsha 410015 Hunan, China; Corresponding authors.

Journal volume & issue: Vol. 68
p. 103055

Abstract

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We generated an induced pluripotent stem (iPS) cell line by reprogramming peripheral blood mononuclear cells of a patient with Usher syndrome type II carrying USH2A gene mutation (c.8559-2A > G). The iPS cell line with confirmed patient-specific point mutation exhibited typical iPS cell characteristics and maintained a normal karyotype. It can be used as 2D and 3D models to investigate the underlying pathogenic mechanism and lay a solid foundation for future personalized therapy.

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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