Work

Establishment of a human induced pluripotent stem cell line from a patient with Alagille syndrome carrying heterozygous mutation in JAG1 gene

Year: 2025

Type: article

Abstract: Alagille syndrome (ALGS) is a complex rare genetic disorder that involves multiple organ systems. We established an induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells of a one-year-old boy with Alagille syndrome carrying a heterozygous mutation c.234C > A (p.C78X) in JAG1 gene. This iPSC line was free of exogenous gene, expressed pluripotency markers, exhibited differentiation potential, have normal karyotype and harbored the same mutations found in the patient. This human induced pluripotent stem cell line can be used for in vitro disease modeling and therapy testing.

Source: Stem Cell Research

DOI: 10.1016/j.scr.2025.103788

Authors: Bin Wang, Wei Song

Institutions: Shandong University of Traditional Chinese Medicine, Shandong Provincial Hospital, Shandong First Medical University

Language: English

Topic: Pluripotent Stem Cells Research

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,360