Generation of induced pluripotent stem cell GZHMCi005-A from amniotic fluid-derived cells with duplication of chromosome 8p


Cases in which the duplication of chromosome 8p (dup 8p) is observed are characterized by facial dysmorphism, agenesis/hypoplasia of the corpus callosum, heart defects and severe mental retardation. The frequency of dup 8p cases is higher compared to other chromosomes because of the Non-allelic homologous recombination (NAHR) between two segmental duplication regions (SDs) containing olfactory receptor gene clusters, REPD (repeat-distal) and REPP (repeat-proximal), located in chromosome 8p23.1. Here we generated a human iPSC line from a patient's amniotic fluid cells with a 18 Mb duplication in 8p23.3p22, which will serve as useful tools for studying dup 8p syndrome. Copyright © 2021 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Yi C, Dingya C, Nengqing L, Hongmei G, Yi L, Huimin Z, Jiajia X, Bing S, Xiaofang S
Journal Stem cell research
Publication Date 2021 Apr;52:102226
PubMed 33588214
DOI 10.1016/j.scr.2021.102226

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