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

Bin Wang; Lu Yang; Yue Li; Min Gao; Haiyan Zhang; Xiaomeng Yang; Jingyun Guan; Yi Liu; Zhongtao Gai

doi:10.1016/j.scr.2021.102162

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

Stem Cell Res. 2021 Mar:51:102162. doi: 10.1016/j.scr.2021.102162. Epub 2021 Jan 8.

Authors

Bin Wang¹, Lu Yang², Yue Li¹, Min Gao¹, Haiyan Zhang¹, Xiaomeng Yang¹, Jingyun Guan¹, Yi Liu³, Zhongtao Gai¹

Affiliations

¹ Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China.
² Digestive Department, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China.
³ Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China. Electronic address: y_liu99@sina.com.

PMID: 33465531
DOI: 10.1016/j.scr.2021.102162

Abstract

Alagille syndrome is a complex multisystem autosomal dominant disorder that is caused by a defect in the Notch signaling pathway. We established an induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells of a 3-month-old boy with Alagille syndrome carrying a heterozygous mutation c.1615C > T (p.Q539X) in JAG1 gene. This iPSC line was free of exogenous gene, expressed pluripotency markers, had normal karyotype, exhibited differentiation potential and harbored the same mutations found in the patient. This iPSC line offers a cell-based model for drug screening studies.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Alagille Syndrome* / genetics
Heterozygote
Humans
Induced Pluripotent Stem Cells*
Infant
Jagged-1 Protein / genetics
Leukocytes, Mononuclear
Male
Mutation

Substances

JAG1 protein, human
Jagged-1 Protein