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

doi:10.1016/j.scr.2022.102699

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

Stem Cell Res. 2022 Apr:60:102699. doi: 10.1016/j.scr.2022.102699. Epub 2022 Feb 2.

Authors

Liying Liang¹, Yunxia Xue², Caiying Su¹, Jianing Wang³, Luyin Chen³, Ting Su¹, Jianyu Ke³, Linyao Xie³, Zekai Cui⁴, Quan Yu⁵, Hon Fai Chan⁶, Jingxiang Zhong⁷, Yonglong Guo⁸, Jiansu Chen⁹

Affiliations

¹ Ophthalmology Department, The First Affiliated Hospital of Jinan University, Guangzhou, China.
² 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.
³ Institute of Ophthalmology, Medical College, Jinan University, Guangzhou 510632, China.
⁴ 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.
⁵ Centric Laboratory, Medical College, Jinan University, Guangzhou, China.
⁶ 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.
⁷ 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.
⁸ 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. Electronic address: winglung@stu.jnu.edu.cn.
⁹ 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. Electronic address: chenjiansu2000@163.com.

PMID: 35152177
DOI: 10.1016/j.scr.2022.102699

Abstract

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.

Publication types

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

MeSH terms

Cell Line
Extracellular Matrix Proteins / genetics
Extracellular Matrix Proteins / metabolism
Humans
Induced Pluripotent Stem Cells* / metabolism
Leukocytes, Mononuclear / metabolism
Mutation / genetics
Usher Syndromes* / genetics

Substances

Extracellular Matrix Proteins
USH2A protein, human

Supplementary concepts

Usher syndrome, type 2A