Human induced pluripotent stem cells (NIHTVBi029-A and NIHTVBi030-A) generated from two patients with a heterozygous mutation in the CDC42 gene

从两名携带 CDC42 基因杂合突变的患者体内生成了人类诱导多能干细胞(NIHTVBi029-A 和 NIHTVBi030-A)。

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作者:Isabella Varea ,Benjamin Joseph ,Kevin Emmerich ,Sahana Manohar-Sindhu ,Jizhong Zou ,Kip Friend ,Xuming Tang ,Dan Yang ,Adriana A de Jesus Rasheed ,Raphaela Goldbach-Mansky ,Manfred Boehm

Abstract

Induced pluripotent stem cells (iPSCs) were successfully generated from peripheral blood mononuclear cells obtained from two patients with a heterozygous mutation in the CDC42 gene. Both iPSC lines expressed pluripotency markers, differentiated into the three germ layers in vitro, showed normal karyotypes, and retained the disease-causing mutation. Created iPSC lines and their differentiated derivatives may be of interest in the study of the physiology of disease mechanisms and therapy.

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