Establishment of a novel human induced pluripotent stem cell line (SIPDi001-A) with compound heterozygous mutations in the UBR7 gene from a Li-Campeau syndrome patient

Benchang Li; Yafei Zhou; Fengyu Che; Rui Zhou; Lidangzhi Mo; Liyu Zhang; Guoxia Wang; Ying Yang

doi:10.1016/j.scr.2023.103165

Establishment of a novel human induced pluripotent stem cell line (SIPDi001-A) with compound heterozygous mutations in the UBR7 gene from a Li-Campeau syndrome patient

Stem Cell Res. 2023 Sep:71:103165. doi: 10.1016/j.scr.2023.103165. Epub 2023 Jul 9.

Authors

Benchang Li¹, Yafei Zhou¹, Fengyu Che¹, Rui Zhou¹, Lidangzhi Mo¹, Liyu Zhang¹, Guoxia Wang¹, Ying Yang²

Affiliations

¹ National Regional Children's Medical Center (Northwest), Key Laboratory of Precision Medicine to Pediatric Diseases of Shaanxi Province, Xi'an Key Laboratory of Children's Health and Diseases, Shaanxi Institute for Pediatric Diseases, Xi'an Children's Hospital, Affiliated Children's Hospital of Xi'an Jiaotong University, 69 Xijuyuan Lane, Xi'an 710003, China.
² National Regional Children's Medical Center (Northwest), Key Laboratory of Precision Medicine to Pediatric Diseases of Shaanxi Province, Xi'an Key Laboratory of Children's Health and Diseases, Shaanxi Institute for Pediatric Diseases, Xi'an Children's Hospital, Affiliated Children's Hospital of Xi'an Jiaotong University, 69 Xijuyuan Lane, Xi'an 710003, China. Electronic address: [email protected].

PMID: 37478672
DOI: 10.1016/j.scr.2023.103165

Abstract

Li-Campeau syndrome (LICAS) is a syndromic neurodevelopmental disorder characterized by autosomal recessive inheritance and global developmental delay. In this study, we reported the generation of a novel induced pluripotent stem cell (iPSC) line derived from peripheral blood mononuclear cells (PBMCs) obtained from a 7-year-old male patient with Li-Campeau syndrome. The patient carries compound heterozygous variants in the UBR7 gene (c.35_54dup, p.S19Rfs*42; c.863 T > C, p.L288P). The iPSC line showed typical cell morphology, robust expression of pluripotent and self-renewal markers, normal karyotype, and trilineage differentiation potential. This iPSC cell line could be valuable for investigating the underlying pathological mechanisms of neurodevelopmental disorders caused by UBR7 mutations.

Publication types

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

MeSH terms

Cell Differentiation / genetics
Cell Line
Child
Humans
Induced Pluripotent Stem Cells* / metabolism
Leukocytes, Mononuclear
Male
Mutation / genetics