Generation of human induced pluripotent stem cell lines derived from four DiGeorge syndrome patients with 22q11.2 deletion
Generation of human induced pluripotent stem cell lines derived from four DiGeorge syndrome patients with 22q11.2 deletion
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DOI：
10.1016/j.scr.2022.102744
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发表时间：
2022-03-12
影响因子：
1.2
通讯作者：
Hayashi, Yohei
中科院分区：
文献类型：
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作者：
Shimizu, Tomoya;Matsuo-Takasaki, Mami;Hayashi, Yohei
DiGeorge综合征（22q11.2缺失综合征，或CATCH 22综合征），由染色体22q11.2的半合子缺失引起，导致多器官发育不良。在这里，我们已经产生了DiGeorge综合征特异性的人诱导多能干细胞（hiPSC）来自四名患者。这些建立的hiPSC系显示自我更新和多能性，并在22q11.2中携带半合子缺失。由于22q11.2缺失引起的DiGeorge综合征的分子发病机制在很大程度上是未知的，这些细胞资源将用于重现疾病表型和开发DiGeorge综合征的新疗法。
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.