Establishment of a human induced pluripotent stem cell line (CSUASOi005-A), from peripheral blood mononuclear cells of a patient with X-linked juvenile retinoschisis carrying a novel mutation in RS1 gene

Shengru Mao; Chengcheng Ding; Yalan Zhou; Yutong Jing; Juan Chen; Yonglong Guo; Jian Liu; Zekai Cui; Xin Yan; Jianing Gu; Yini Wang; Jiansu Chen; Shibo Tang

Stem Cell Research (Mar 2020)

Establishment of a human induced pluripotent stem cell line (CSUASOi005-A), from peripheral blood mononuclear cells of a patient with X-linked juvenile retinoschisis carrying a novel mutation in RS1 gene

Shengru Mao,
Chengcheng Ding,
Yalan Zhou,
Yutong Jing,
Juan Chen,
Yonglong Guo,
Jian Liu,
Zekai Cui,
Xin Yan,
Jianing Gu,
Yini Wang,
Jiansu Chen,
Shibo Tang

Affiliations

Shengru Mao: Aier School of Ophthalmology, Central South University, P.R.C., 18th floor, the New century building, #198 Furong Middle Road, Changsha, Hunan 410015, China; Aier Eye Institute, 18th floor, the New century building, #198 Furong Middle Road, Changsha, Hunan 410015, China
Chengcheng Ding: Aier Eye Institute, 18th floor, the New century building, #198 Furong Middle Road, Changsha, Hunan 410015, China
Yalan Zhou: Aier School of Ophthalmology, Central South University, P.R.C., 18th floor, the New century building, #198 Furong Middle Road, Changsha, Hunan 410015, China; Aier Eye Institute, 18th floor, the New century building, #198 Furong Middle Road, Changsha, Hunan 410015, China
Yutong Jing: Aier School of Ophthalmology, Central South University, P.R.C., 18th floor, the New century building, #198 Furong Middle Road, Changsha, Hunan 410015, China; Aier Eye Institute, 18th floor, the New century building, #198 Furong Middle Road, Changsha, Hunan 410015, China
Juan Chen: Changsha Aier Eye Hospital, #388 Furong Middle Road, Changsha, Hunan 410015, China
Yonglong Guo: Key Laboratory for Regenerative Medicine, Ministry of Education, Jinan University, Guangzhou 510632, China
Jian Liu: Aier Eye Institute, 18th floor, the New century building, #198 Furong Middle Road, Changsha, Hunan 410015, China
Zekai Cui: Aier School of Ophthalmology, Central South University, P.R.C., 18th floor, the New century building, #198 Furong Middle Road, Changsha, Hunan 410015, China; Aier Eye Institute, 18th floor, the New century building, #198 Furong Middle Road, Changsha, Hunan 410015, China
Xin Yan: Aier School of Ophthalmology, Central South University, P.R.C., 18th floor, the New century building, #198 Furong Middle Road, Changsha, Hunan 410015, China; Aier Eye Institute, 18th floor, the New century building, #198 Furong Middle Road, Changsha, Hunan 410015, China
Jianing Gu: Aier Eye Institute, 18th floor, the New century building, #198 Furong Middle Road, Changsha, Hunan 410015, China
Yini Wang: Aier Eye Institute, 18th floor, the New century building, #198 Furong Middle Road, Changsha, Hunan 410015, China
Jiansu Chen: Aier School of Ophthalmology, Central South University, P.R.C., 18th floor, the New century building, #198 Furong Middle Road, Changsha, Hunan 410015, China; Aier Eye Institute, 18th floor, the New century building, #198 Furong Middle Road, Changsha, Hunan 410015, 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 author.
Shibo Tang: Aier School of Ophthalmology, Central South University, P.R.C., 18th floor, the New century building, #198 Furong Middle Road, Changsha, Hunan 410015, China; Aier Eye Institute, 18th floor, the New century building, #198 Furong Middle Road, Changsha, Hunan 410015, China; CAS Center for Excellence in Brain Science and Intelligence Technology, Chinese Academy of Sciences, Shanghai 200031, China; Corresponding author.

Journal volume & issue: Vol. 43

Abstract

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X-linked retinoschisis (XLRS) is a one of most common retinal genetic diseases of juvenile progressive vitreoretinal degeneration in males, which caused by the mutation of RS1 gene. In this study, an induced pluripotent stem cell (iPSC) line was generated from human peripheral blood mononuclear cells (PBMC) of a 13-year-old male patient with X-linked juvenile retinoschisis carrying a novel mutation in RS1 gene. The iPSCs exhibited iPSC morphology, expression of the pluripotency markers and in vitro differentiation potential, and the CSUASOi005-A iPSC line retained the original mutation (c.527T > A) of RS1 with a normal karyotype.

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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