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Generation of JAG1 gene c.1615C > T heterozygous mutation human embryonic stem cell line (SDQLCHe001-A) using cytosine base editor.

Stem cell research - 1 Aug 2023

Li Yue, Wan Zirui, Wang Bin, Zhang Haiyan, Guan Jingyun, Yang Xiaomeng, Jin Xiaohua, Ma Xu, Liu Yi

Abstract excerpt

Pathogenic variants in Jagged-1 (JAG1), which encodes the ligand of the Notch receptor, had been demonstrated to cause Alagille syndrome. However, there is no evidence to support any genotype-phenotype correlations. Here, we generated a gene-edited human embryonic stem cell (hESC) line (H9) carrying the c.1615C > T mutation in JAG1 that was identified in a patient with Alagille syndrome (ALGS). This modified cell...

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PMID: 37245339
DOI: 10.1016/j.scr.2023.103120

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Generation of JAG1 gene c.1615C > T heterozygous mutation human embryonic stem cell line (SDQLCHe001-A) using cytosine base editor.PMID 37245339Read ↗

Generation of an Alagille Syndrome (ALGS) patient-derived induced pluripotent stem cell line (TRNDi036-A) carrying a heterozygous mutation (p.Cys693*) in the JAG1 gene.Semantic proximity Read ↗

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Establishment of a human induced pluripotent stem cell line (SDQLCHi037-A) from a patient with Alagille syndrome carrying heterozygous mutation in JAG1 gene.Semantic proximity Read ↗

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Novel human pathological mutations. Gene symbol: JAG1. Disease: Alagille syndrome.Semantic proximity Read ↗

Novel human pathological mutations. Gene symbol: JAG1. Disease: Alagille syndrome.Semantic proximity Read ↗

Novel human pathological mutations. Gene symbol: JAG1. Disease: Alagille syndrome.Semantic proximity Read ↗

Novel human pathological mutations. Gene symbol: JAG1. Disease: Alagille syndrome.Semantic proximity Read ↗

Novel human pathological mutations. Gene symbol: JAG1. Disease: Alagille syndrome.Semantic proximity Read ↗

Novel human pathological mutations. Gene symbol: JAG1. Disease: Alagille syndrome.Semantic proximity Read ↗

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