Generation and characterization of the induced pluripotent stem cell line SHCDNi004-A from a ten-year-old Chinese boy with X-linked mental retardation in IL1RAPL1 deficiency

Fang Yuan; Simei Wang; Yilin Wang; Anqi Wang; Chao Wang; Xiaona Luo; Quanmei Xu; Rongrong Yin; Hongyi Cheng; Chunmei Wang; Miao Guo; Yuanfeng Zhang; Jiaming Xi; Jie Yang; Xiaomin Sun; Jingbin Yan; Fanyi Zeng; Yucai Chen

doi:10.1016/j.scr.2021.102292

Generation and characterization of the induced pluripotent stem cell line SHCDNi004-A from a ten-year-old Chinese boy with X-linked mental retardation in IL1RAPL1 deficiency

Stem Cell Res. 2021 May:53:102292. doi: 10.1016/j.scr.2021.102292. Epub 2021 Mar 17.

Authors

Fang Yuan¹, Simei Wang¹, Yilin Wang¹, Anqi Wang¹, Chao Wang¹, Xiaona Luo¹, Quanmei Xu¹, Rongrong Yin¹, Hongyi Cheng¹, Chunmei Wang¹, Miao Guo¹, Yuanfeng Zhang¹, Jiaming Xi¹, Jie Yang¹, Xiaomin Sun¹, Jingbin Yan², Fanyi Zeng², Yucai Chen³

Affiliations

¹ Department of Neurology, Shanghai Children's Hospital, Shanghai JiaoTong University, Shanghai 200062, China.
² NHC Key Laboratory of Medical Embryogenesis and Developmental Molecular Biology & Shanghai Key Laboratory of Embryo and Reproduction Engineering, Shanghai 200040, China.
³ Department of Neurology, Shanghai Children's Hospital, Shanghai JiaoTong University, Shanghai 200062, China; NHC Key Laboratory of Medical Embryogenesis and Developmental Molecular Biology & Shanghai Key Laboratory of Embryo and Reproduction Engineering, Shanghai 200040, China. Electronic address: chenyc@shchildren.com.cn.

PMID: 33774333
DOI: 10.1016/j.scr.2021.102292

Abstract

Mental retardation, X-linked 21/34 (MRX21/34), is a rare intellectual disability disease caused by mutations in the IL1RAPL1 (Interleukin-1 Receptor Accessory Protein-Like 1) gene. Using Sendai virus-mediated reprogramming, we established an induced pluripotent stem cell (iPSC) line from PBMCs collected from a ten-year-old boy with MRX21/34. The iPSCs showed stable amplification, expressed pluripotent genes, displayed a normal karyotype, and had characteristics of trilineage differentiation potential in an in vitro differentiation assay.

Publication types

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

MeSH terms

Cell Differentiation
Child
China
Humans
Induced Pluripotent Stem Cells*
Interleukin-1 Receptor Accessory Protein
Male
Mental Retardation, X-Linked*
Sendai virus

Substances

IL1RAPL1 protein, human
Interleukin-1 Receptor Accessory Protein