Generation of human induced pluripotent stem cell lines derived from four DiGeorge syndrome patients with 22q11.2 deletion


DiGeorge syndrome (22q11.2 deletion syndrome, or CATCH22 syndrome), caused by hemizygous deletion of chromosome 22q11.2, results in the poor development of multiple organs. Here we have generated DiGeorge syndrome-specific human induced pluripotsnt stem cells (hiPSCs) derived from four patients. These established hiPSC lines showed self-renewal and pluripotency and carried a hemizygous deletion in 22q11.2. Since the molecular pathogenesis of DiGeorge syndrome caused by the 22q11.2 deletion is largely unknown, these cell resources will be useful for recapitulating disease phenotypes and for developing new therapies for DiGeorge syndrome. Copyright © 2022 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Shimizu T, Matsuo-Takasaki M, Luijkx D, Takami M, Arai Y, Noguchi M, Nakamura Y, Hayata T, Saito MK, Hayashi Y
Journal Stem cell research
Publication Date 2022 May;61:102744
PubMed 35292424
DOI 10.1016/j.scr.2022.102744

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