Generation of an induced pluripotent stem cell line SDQLCHi026-A from a hereditary tyrosinemia type I patient carrying compound heterozygote mutations in FAH gene

被引:1
作者
Zhang, Haiyan [1 ]
Liu, Chen [2 ]
Ma, Yanyan [1 ]
Lin, Lin [2 ]
Lv, Yuqiang [1 ]
Gao, Min [1 ]
Gai, Zhongtao [1 ]
Liu, Yi [1 ]
机构
[1] Shandong Univ, Pediat Res Inst, Qilu Childrens Hosp, Cheeloo Coll Med, Jinan 250022, Shandong, Peoples R China
[2] Shandong Univ, Qilu Childrens Hosp, Neonatal Dept, Cheeloo Coll Med, Jinan 250022, Shandong, Peoples R China
基金
中国国家自然科学基金;
关键词
iPSC; Reprogramming; hereditary tyrosinemia type I; FAH;
D O I
10.1016/j.scr.2021.102331
中图分类号
Q813 [细胞工程];
学科分类号
摘要
Here we describe the generation of induced pluripotent stem cells (iPSCs) from a patient diagnosed as hereditary tyrosinemia type I (HT1) caused by FAH gene mutation. Induced pluripotent stem cells (iPSCs) were developed using non-integrating episomal vectors containing OCT4, SOX2, KLF4, BCL-XL and MYC. The established iPSC line (SDQLCHi026-A) displayed pluripotent cell morphology, high expression levels of pluripotency markers, differentiation potential in vitro, normal karyotype, and remaining the original FAH gene mutation.
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页数:4
相关论文
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[2]   Biochemical and Clinical Aspects of Hereditary Tyrosinemia Type 1 [J].
Morrow, Genevieve ;
Tanguay, Robert M. .
HEREDITARY TYROSINEMIA: PATHOGENESIS, SCREENING AND MANAGEMENT, 2017, 959 :9-21