Stem Cell Research (Apr 2021)

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

  • Cheng Yi,
  • Cao Dingya,
  • Liu Nengqing,
  • Guan Hongmei,
  • Liang Yi,
  • Zhang Huimin,
  • Xian jiajia,
  • Song Bing,
  • Sun Xiaofang

Journal volume & issue
Vol. 52
p. 102226

Abstract

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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.