Generation of induced pluripotent stem cell line, ZJUCHi002-A, from Charcot-Marie-Tooth disease type 2A (CMT2A) patient with a mutation of c.752C > T in MFN2

被引：2

作者：

Xu, Jiake ^{[1
,2
,3
]}

Fu, Yong ^{[5
]}

Xia, Weichun ^{[1
,2
,3
]}

He, Jing ^{[1
,2
,3
]}

Zou, Yan ^{[6
]}

Ruan, Wencong ^{[7
]}

Lou, Qi ^{[8
]}

Li, Ying ^{[1
,2
,3
]}

Pan, Jianwei ^{[9
]}

Li, Haifeng ^{[7
]}

Chen, Wei ^{[1
,2
,3
,4
]}

机构：

[1] Zhejiang Univ, Sch Med, Childrens Hosp, Hangzhou 310052, Zhejiang, Peoples R China

[2] Zhejiang Univ, Sch Med, Key Lab Diag & Treatment Neonatal Dis Zhejiang Pr, Hangzhou 310052, Zhejiang, Peoples R China

[3] Zhejiang Univ, Inst Translat Med, Sch Med, Hangzhou 310020, Zhejiang, Peoples R China

[4] Zhejiang Univ, Sch Med, Minist Hlth China, Dept Neurobiol,Key Lab Med Neurobiol, Hangzhou 310058, Zhejiang, Peoples R China

[5] Zhejiang Univ, Sch Med, Childrens Hosp, Otolaryngol Dept, Hangzhou, Zhejiang, Peoples R China

[6] Zhejiang Ctr Dis Control & Prevent, Hangzhou, Zhejiang, Peoples R China

[7] Zhejiang Univ, Sch Med, Childrens Hosp, Pediat Rehabil Dept, Hangzhou 310052, Zhejiang, Peoples R China

[8] Zhejiang Acad Med Sci, Expt Anim Ctr, Hangzhou 310013, Zhejiang, Peoples R China

[9] Zhejiang Univ, Sch Med, Affiliated Hosp 1, Dept Neurosurg, Hangzhou 310009, Zhejiang, Peoples R China

来源：

STEM CELL RESEARCH | 2019年 / 36卷

基金：

中国国家自然科学基金;

关键词：

D O I：

10.1016/j.scr.2019.101411

中图分类号：

Q813 [细胞工程];

学科分类号：

摘要：

The human induced pluripotent stem cell (iPSC) line ZJUCHi002-A was established from renal epithelial cells present in urine (urinary cells) collected from an 8-year-old Charcot-Marie-Tooth disease type 2A (CMT2A) patient carrying point mutation in MFN2 (c.752C> T). Urinary cells were reprogrammed by retrovirus vectors containing reprogramming factors: OCT4, SOX2, KLF4 and c-MYC. The pluripotency, capacity of differentiation into 3 germ layers, silence of reprogramming factors and normal karyotype were all confirmed in this study.

引用

页数：5

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[1] Generation of induced pluripotent stem cell line, ZJUCHi002-A, from Charcot-Marie-Tooth disease type 2A (CMT2A) patient with a mutation of c.752C>T in MFN2 ( Vol 36, 101411 , 2019 )
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[8] Phenotypic variability in a Charcot Marie tooth neuropathy Type 2 A (CMT2A) Oregon kindred with a Mitofusin 2 (MFN2) G740C missence mutation
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[9] Generation of a human induced pluripotent stem cell (iPSC) line (JUCTCi019-A) from a patient with Charcot-Marie-Tooth disease type 2A2 (CMT2A2) due to a heterozygous missense substitution c.2119C > T (p. Arg707Trp) in MFN2 gene
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Generation of induced pluripotent stem cell line, ZJUCHi002-A, from Charcot-Marie-Tooth disease type 2A (CMT2A) patient with a mutation of c.752C &gt; T in MFN2

Generation of induced pluripotent stem cell line, ZJUCHi002-A, from Charcot-Marie-Tooth disease type 2A (CMT2A) patient with a mutation of c.752C > T in MFN2