Establishment of induced pluripotent stem cell line CSUASOi003- A from an autosomal recessive retinitis pigmentosa patient carrying compound heterozygous mutations in CRB1 gene

Yalan Zhou; Chengcheng Ding; Shutao Xia; Yutong Jing; Shengru Mao; Jian Liu; Juan Chen; Hon fai Chan; Shibo Tang; Jiansu Chen

Stem Cell Research (Apr 2020)

Establishment of induced pluripotent stem cell line CSUASOi003- A from an autosomal recessive retinitis pigmentosa patient carrying compound heterozygous mutations in CRB1 gene

Yalan Zhou,
Chengcheng Ding,
Shutao Xia,
Yutong Jing,
Shengru Mao,
Jian Liu,
Juan Chen,
Hon fai Chan,
Shibo Tang,
Jiansu Chen

Affiliations

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
Chengcheng Ding: Aier Eye Institute, 18th floor, the New century building, #198 Furong Middle Road, Changsha, Hunan 410015, China
Shutao Xia: State Key Laboratory of Biocatalysis and Enzyme Engineering, School of Life Science, Hubei University, Wuhan, Hubei 430062, 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
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
Jian Liu: 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
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
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, Shanghai 200031, China; Corresponding author at: Aier School of Ophthalmology, Central South University, P.R.C., 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; Institute of Ophthalmology, Medical College, Jinan University, Guangzhou 510632, China; Corresponding author at: Institute of Ophthalmology, Medical College, Jinan University, Guangzhou 510632, China.

Journal volume & issue: Vol. 44

Abstract

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Abstract:: Crumbs homologue 1 (CRB1) mutations have been found in retinitis pigmentosa (RP) patients lead to severe retinal dystrophies. The human induced pluripotent stem (iPS) cell line CSUASOi003-A derived from peripheral blood mononuclear cells (PBMCs) of a patient carrying two heterozygous mutations (2249G>A p.G750D and c.2809G>A p.A937T) in CRB1 gene was generated by non-integrative reprogramming technology. Pluripotency and differentiation capacity were assessed by immunocytochemistry and quantitative polymerase chain reaction (qPCR). The RP patient-specific iPS cell line provide a powerful model for evaluating the pathological phenotypes of the disease.

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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