Human induced pluripotent stem cells generated from a patient with a homozygous mutation in the Lyn kinase gene

从携带 Lyn 激酶基因纯合突变的患者体内生成的人类诱导多能干细胞

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作者:Rebecca Harper ,Quan Yu ,Yangtenyu Liu ,Dan Yang ,Jizhong Zou ,Jeanette Beers ,Adriana A de Jesus Rasheed ,Raphaela Goldbach-Mansky ,Manfred Boehm ,Guibin Chen

Abstract

We have successfully generated induced pluripotent stem cells (iPSC) from dermal fibroblasts of the patient with a germline mutation in the coding region of the LYN kinase gene. This gain of function (GOF) mutation eliminates the inhibitory tyrosine (Y) at the position p.Y508, with an unknown established disease etiology. The iPSC carrying germline mutation in LYN are phenotypically normal, and they have capacity to differentiate toward the three germ layers. These iPSCs are critical for studying this unknown disease etiology and to the further understand the role of Lyn kinases in autoimmune disease.

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