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

Stem cell research - 1 May 2022

Shimizu Tomoya, Matsuo-Takasaki Mami, Luijkx Dorian, Takami Miho, Arai Yutaka, Noguchi Michiya, Nakamura Yukio, Hayata Tadayoshi, Saito Megumu K, Hayashi Yohei

Abstract excerpt

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...

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Identifiers

PMID: 35292424
DOI: 10.1016/j.scr.2022.102744

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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