Generation of an induced pluripotent stem cell line from an Alström Syndrome patient with ALMS1 mutation (c.3902C > A, c.6436C > T) and a gene correction isogenic iPSC line

Xiaoli Ji; Qingyuan Tang; Chuanqing Tang; Ziyan Wu; Ling Ma; Xiaohong Guo; Guoqiang Cheng; Yuejun Chen; Tong Yang; Man Xiong; Wenhao Zhou

doi:10.1016/j.scr.2020.102089

Generation of an induced pluripotent stem cell line from an Alström Syndrome patient with ALMS1 mutation (c.3902C > A, c.6436C > T) and a gene correction isogenic iPSC line

Stem Cell Res. 2020 Dec:49:102089. doi: 10.1016/j.scr.2020.102089. Epub 2020 Nov 17.

Authors

Xiaoli Ji¹, Qingyuan Tang², Chuanqing Tang², Ziyan Wu³, Ling Ma¹, Xiaohong Guo⁴, Guoqiang Cheng¹, Yuejun Chen³, Tong Yang⁵, Man Xiong⁶, Wenhao Zhou⁷

Affiliations

¹ Department of Neonatology, Children's Hospital of Fudan University, Shanghai, China.
² Stem Cell Research Center, Institute of Pediatrics, Children's Hospital, Fudan University, 399 Wanyuan Road, Shanghai 201102, China.
³ Institute of Neuroscience, CAS Center for Excellence in Brain Science and Intelligence Technology, Chinese Academy of Sciences, Shanghai 200031, China.
⁴ Molecular Medical Center, Pediatric Research Institute, Children's Hospital, Fudan University, 399 Wanyuan Road, Shanghai 201102, China.
⁵ Shanghai Gemple Biotechnology Co, LTD, China.
⁶ Department of Neonatology, Children's Hospital of Fudan University, Shanghai, China; Stem Cell Research Center, Institute of Pediatrics, Children's Hospital, Fudan University, 399 Wanyuan Road, Shanghai 201102, China. Electronic address: man_xiong@hotmail.com.
⁷ Department of Neonatology, Children's Hospital of Fudan University, Shanghai, China; Key Laboratory of Neonatal Diseases, Ministry of Health, Children's Hospital of Fudan University, Shanghai 201102, China. Electronic address: zwhchfu@126.com.

PMID: 33264725
DOI: 10.1016/j.scr.2020.102089

Abstract

To develop a disease model for the human Alström Syndrome (AS), we used the episomal reprogramming system and CRISPR/Cas9 technology to generate an induced pluripotent stem cell (iPSC) line with the compound heterozygous patient mutation (ALMS1 c.3902C > A, c.6436C > T) along with an isogenic gene-corrected control iPSC line. Both iPSC lines showed normal karyotype, expressed pluripotent markers, and differentiated into cells of three embryonic germ layer. These AS mutant and isogenic iPSC control line will be of great use in investigating the disease mechanisms, drug screening and treatment in patients.

Publication types

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

MeSH terms

Alstrom Syndrome*
Cell Cycle Proteins / genetics*
Cell Differentiation
Cell Line*
Humans
Induced Pluripotent Stem Cells*
Mutation

Substances

ALMS1 protein, human
Cell Cycle Proteins