Article
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 research - 1 Sept 2023
Li Benchang, Zhou Yafei, Che Fengyu, Zhou Rui, Mo Lidangzhi, Zhang Liyu, Wang Guoxia, Yang Ying
Abstract excerpt
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...
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