Stem Cell Research (May 2021)
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
Affiliations
- Fang Yuan
- Department of Neurology, Shanghai Children’s Hospital, Shanghai JiaoTong University, Shanghai 200062, China
- Simei Wang
- Department of Neurology, Shanghai Children’s Hospital, Shanghai JiaoTong University, Shanghai 200062, China
- Yilin Wang
- Department of Neurology, Shanghai Children’s Hospital, Shanghai JiaoTong University, Shanghai 200062, China
- Anqi Wang
- Department of Neurology, Shanghai Children’s Hospital, Shanghai JiaoTong University, Shanghai 200062, China
- Chao Wang
- Department of Neurology, Shanghai Children’s Hospital, Shanghai JiaoTong University, Shanghai 200062, China
- Xiaona Luo
- Department of Neurology, Shanghai Children’s Hospital, Shanghai JiaoTong University, Shanghai 200062, China
- Quanmei Xu
- Department of Neurology, Shanghai Children’s Hospital, Shanghai JiaoTong University, Shanghai 200062, China
- Rongrong Yin
- Department of Neurology, Shanghai Children’s Hospital, Shanghai JiaoTong University, Shanghai 200062, China
- Hongyi Cheng
- Department of Neurology, Shanghai Children’s Hospital, Shanghai JiaoTong University, Shanghai 200062, China
- Chunmei Wang
- Department of Neurology, Shanghai Children’s Hospital, Shanghai JiaoTong University, Shanghai 200062, China
- Miao Guo
- Department of Neurology, Shanghai Children’s Hospital, Shanghai JiaoTong University, Shanghai 200062, China
- Yuanfeng Zhang
- Department of Neurology, Shanghai Children’s Hospital, Shanghai JiaoTong University, Shanghai 200062, China
- Jiaming Xi
- Department of Neurology, Shanghai Children’s Hospital, Shanghai JiaoTong University, Shanghai 200062, China
- Jie Yang
- Department of Neurology, Shanghai Children’s Hospital, Shanghai JiaoTong University, Shanghai 200062, China
- Xiaomin Sun
- Department of Neurology, Shanghai Children’s Hospital, Shanghai JiaoTong University, Shanghai 200062, China
- Jingbin Yan
- NHC Key Laboratory of Medical Embryogenesis and Developmental Molecular Biology & Shanghai Key Laboratory of Embryo and Reproduction Engineering, Shanghai 200040, China
- Fanyi Zeng
- NHC Key Laboratory of Medical Embryogenesis and Developmental Molecular Biology & Shanghai Key Laboratory of Embryo and Reproduction Engineering, Shanghai 200040, China
- Yucai Chen
- 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; Corresponding author at: Department of Neurology, Shanghai Children’s Hospital, Shanghai JiaoTong University, Shanghai 200062, China.
- Journal volume & issue
-
Vol. 53
p. 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.
