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
; 71: 103165, 2023 09.
Article
en En
| MEDLINE
| ID: mdl-37478672
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.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Células Madre Pluripotentes Inducidas
Límite:
Child
/
Humans
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Male
Idioma:
En
Revista:
Stem Cell Res
Año:
2023
Tipo del documento:
Article