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


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. Copyright © 2021. Published by Elsevier B.V.

Authors Liu N, Yang X, Yang L, Xu J, Dong R, Li Y, Li Z, Zhang H, Gao M, Lv Y, Liu Y, Gai Z
Journal Stem cell research
Publication Date 2021 Oct;56:102533
PubMed 34530396
DOI 10.1016/j.scr.2021.102533

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