Establishment of human induced pluripotent stem cell line (SDQLCHi040-A) from a patient with Infantile-onset inflammatory bowel disease carrying a homozygous mutation in IL10RA gene

Ning Liu; Xiaomeng Yang; Lu Yang; Junjie Xu; Rui Dong; Yue Li; Zilong Li; Haiyan Zhang; Min Gao; Yuqiang Lv; Yi Liu; Zhongtao Gai

doi:10.1016/j.scr.2021.102533

Establishment of human induced pluripotent stem cell line (SDQLCHi040-A) from a patient with Infantile-onset inflammatory bowel disease carrying a homozygous mutation in IL10RA gene

Stem Cell Res. 2021 Oct:56:102533. doi: 10.1016/j.scr.2021.102533. Epub 2021 Sep 7.

Authors

Ning Liu¹, Xiaomeng Yang², Lu Yang³, Junjie Xu³, Rui Dong², Yue Li², Zilong Li⁴, Haiyan Zhang², Min Gao², Yuqiang Lv², Yi Liu⁵, Zhongtao Gai⁶

Affiliations

¹ Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China; Key Laboratory of Infection and Immunity of Shandong Province, Department of Immunology, School of Biomedical Sciences, Shandong University, Jinan 250012, China.
² Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China.
³ Department of Digestive Disease, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China.
⁴ Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China; Key Laboratory of Infection and Immunity of Shandong Province, Department of Immunology, School of Biomedical Sciences, Shandong University, Jinan 250012, China; Department of Digestive Disease, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China.
⁵ Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China. Electronic address: y_liu99@sina.com.
⁶ Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China. Electronic address: gaizhongtaoi@sina.com.

PMID: 34530396
DOI: 10.1016/j.scr.2021.102533

Abstract

Infantile-onset inflammatory bowel diseases (IO-IBD) is a heterogeneous subgroup of IBD spectrum characterized by age of onset less than 2 years old. Mutations in interleukin-10 receptor A (IL10RA) is one of the major causes. Here, we generated a human induced pluripotent stem cell line SDQLCHi040-A from a 1-year-4-month-old girl with IO-IBD caused by homozygous mutation (c.301 C > T, p.R101W) in the IL10RA gene (OMIM*146933). The established iPSC line was validated by pluripotency markers, original gene mutation and demonstrated trilineage differentiation potential in vitro.

Publication types

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

MeSH terms

Child, Preschool
Female
Homozygote
Humans
Induced Pluripotent Stem Cells*
Infant
Inflammatory Bowel Diseases* / genetics
Mutation