Establishment of induced pluripotent stem cell line CSUASOi004-A by reprogramming peripheral blood mononuclear cells of a PRPF6-related dominant retinitis pigmentosa patient

Yalan Zhou; Yutong Jing; Shengru Mao; Jian Liu; Zekai Cui; Yini Wang; Juan Chen; Hon Fai Chan; Shibo Tang; Jiansu Chen

doi:10.1016/j.scr.2020.101793

Establishment of induced pluripotent stem cell line CSUASOi004-A by reprogramming peripheral blood mononuclear cells of a PRPF6-related dominant retinitis pigmentosa patient

Stem Cell Res. 2020 May:45:101793. doi: 10.1016/j.scr.2020.101793. Epub 2020 Apr 20.

Authors

Yalan Zhou¹, Yutong Jing², Shengru Mao³, Jian Liu⁴, Zekai Cui⁵, Yini Wang⁶, Juan Chen⁷, Hon Fai Chan⁸, Shibo Tang⁹, Jiansu Chen¹⁰

Affiliations

¹ 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. Electronic address: wo641852254@163.com.
² 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. Electronic address: 13572560975@163.com.
³ 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. Electronic address: 307405780@qq.com.
⁴ Aier Eye Institute, 18th floor, the New century building, #198 Furong Middle Road, Changsha, Hunan 410015, China. Electronic address: Liujian2008wzq@126.com.
⁵ Aier Eye Institute, 18th floor, the New century building, #198 Furong Middle Road, Changsha, Hunan 410015, China. Electronic address: cuizk7@qq.com.
⁶ Aier Eye Institute, 18th floor, the New century building, #198 Furong Middle Road, Changsha, Hunan 410015, China. Electronic address: 53943179@qq.com.
⁷ Changsha Aier Eye Hospital, #388 Furong Middle Road, Changsha, Hunan 410015, China. Electronic address: hnchenjuan@hotmail.com.
⁸ Institute for Tissue Engineering and Regenerative Medicine, The Chinese University of Hong Kong, Hong Kong, PR China; School of Biomedical Sciences, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong, PR China. Electronic address: honfaichan@cuhk.edu.hk.
⁹ 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.. Electronic address: tangsb@mail.sysu.edu.com.
¹⁰ 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, RP China. Electronic address: chenjiansu2000@163.com.

PMID: 32335390
DOI: 10.1016/j.scr.2020.101793

Abstract

We have established the patient-specific induced pluripotent stem (iPS) cell line CSUASOi004-A by using peripheral blood mononuclear cells (PBMCs) of a retinitis pigmentosa (RP) patient with a PRPF6 gene mutation (c.G2699A:p.R900H). CSUASOi004-A was established by a non-integrative method with four episomal plasmids containing the Yamanaka factors. The cell line with the specific point mutation had the typical features of normal iPS cells. For instance, the cells expressed pluripotency markers, generated all three germ layers and had a normal karyotype, and they can serve as a model for unravelling the pathogenic mechanisms underlying PRPF6-associated retinal degeneration.

Publication types

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

MeSH terms

Cell Differentiation
Cell Line
Cellular Reprogramming
Humans
Induced Pluripotent Stem Cells*
Leukocytes, Mononuclear
Mutation
RNA Splicing Factors
Retinitis Pigmentosa* / genetics
Transcription Factors

Substances

PRPF6 protein, human
RNA Splicing Factors
Transcription Factors