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


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. Copyright © 2021. Published by Elsevier B.V.

Authors Yuan F, Wang S, Wang Y, Wang A, Wang C, Luo X, Xu Q, Yin R, Cheng H, Wang C, Guo M, Zhang Y, Xi J, Yang J, Sun X, Yan J, Zeng F, Chen Y
Journal Stem cell research
Publication Date 2021 May;53:102292
PubMed 33774333
DOI 10.1016/j.scr.2021.102292

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