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


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. Copyright © 2023 Affiliated Children\u0019s Hospital of Xi\u0019an Jiaotong University. Published by Elsevier B.V. All rights reserved.

Authors Li B, Zhou Y, Che F, Zhou R, Mo L, Zhang L, Wang G, Yang Y
Journal Stem cell research
Publication Date 2023 Sep;71:103165
PubMed 37478672
DOI 10.1016/j.scr.2023.103165

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