Establishment of iPS cell line (KLRMMEi002-A) by reprogramming peripheral blood mononuclear cells from a patient with USH2A-associated Usher syndrome

Liying Liang; Yunxia Xue; Caiying Su; Jianing Wang; Luyin Chen; Ting Su; Jianyu Ke; Linyao Xie; Zekai Cui; Quan Yu; Hon fai Chan; Jingxiang Zhong; Yonglong Guo; Jiansu Chen

Stem Cell Research (Apr 2022)

Establishment of iPS cell line (KLRMMEi002-A) by reprogramming peripheral blood mononuclear cells from a patient with USH2A-associated Usher syndrome

Liying Liang,
Yunxia Xue,
Caiying Su,
Jianing Wang,
Luyin Chen,
Ting Su,
Jianyu Ke,
Linyao Xie,
Zekai Cui,
Quan Yu,
Hon fai Chan,
Jingxiang Zhong,
Yonglong Guo,
Jiansu Chen

Affiliations

Liying Liang: Ophthalmology Department, The First Affiliated Hospital of Jinan University, Guangzhou, China
Yunxia Xue: Ophthalmology Department, The First Affiliated Hospital of Jinan University, Guangzhou, China; Key Laboratory for Regenerative Medicine, Ministry of Education, Jinan University, Guangzhou 510632, China; Institute of Ophthalmology, Medical College, Jinan University, Guangzhou 510632, China
Caiying Su: Ophthalmology Department, The First Affiliated Hospital of Jinan University, Guangzhou, China
Jianing Wang: Institute of Ophthalmology, Medical College, Jinan University, Guangzhou 510632, China
Luyin Chen: Institute of Ophthalmology, Medical College, Jinan University, Guangzhou 510632, China
Ting Su: Ophthalmology Department, The First Affiliated Hospital of Jinan University, Guangzhou, China
Jianyu Ke: Institute of Ophthalmology, Medical College, Jinan University, Guangzhou 510632, China
Linyao Xie: Institute of Ophthalmology, Medical College, Jinan University, Guangzhou 510632, China
Zekai Cui: Aier Eye Institute, 18th floor, the New century building, #198 Furong Middle Road, Changsha 410015, Hunan, China; Aier School of Ophthalmology, Central South University, P.R.C., 18th floor, the New century building, #198 Furong Middle Road, Changsha 410015, Hunan, China
Quan Yu: Centric Laboratory, Medical College, Jinan University, Guangzhou, China
Hon fai Chan: Institute for Tissue Engineering and Regenerative Medicine, The Chinese University of Hong Kong, Hong Kong, China; School of Biomedical Sciences, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong, China
Jingxiang Zhong: Ophthalmology Department, The First Affiliated Hospital of Jinan University, Guangzhou, China; Key Laboratory for Regenerative Medicine, Ministry of Education, Jinan University, Guangzhou 510632, China; Institute of Ophthalmology, Medical College, Jinan University, Guangzhou 510632, China; The Sixth Affiliated Hospital of Jinan University, Guangzhou, China
Yonglong Guo: Ophthalmology Department, The First Affiliated Hospital of Jinan University, Guangzhou, China; Key Laboratory for Regenerative Medicine, Ministry of Education, Jinan University, Guangzhou 510632, China; Institute of Ophthalmology, Medical College, Jinan University, Guangzhou 510632, China; Corresponding authors at: Ophthalmology Department, The First Affiliated Hospital of Jinan University, Guangzhou, China.
Jiansu Chen: Ophthalmology Department, The First Affiliated Hospital of Jinan University, Guangzhou, China; Key Laboratory for Regenerative Medicine, Ministry of Education, Jinan University, Guangzhou 510632, 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; Aier School of Ophthalmology, Central South University, P.R.C., 18th floor, the New century building, #198 Furong Middle Road, Changsha 410015, Hunan, China; Corresponding authors at: Ophthalmology Department, The First Affiliated Hospital of Jinan University, Guangzhou, China.

Journal volume & issue: Vol. 60
p. 102699

Abstract

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USH type 2 (USH2) is an autosomal recessive disorder that is characterized by inherited retinopathies and sensorineural hearing loss. USH type 2 (USH2) is frequently caused by USH2A mutations, which account for 74–90% of USH2 cases. We used peripheral blood mononuclear cells (PBMCs) from a USH2 patient with a USH2A gene mutation (c.8559-2A > G) to create an induced pluripotent stem (iPS) cell line. The patient-specific iPS cell line with the specific point mutation exhibited typical iPS cell characteristics, and it can be used as a model to investigate the pathogenic mechanisms underlying USH2A-associated retinal degeneration and sensorineural hearing loss.

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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