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

从携带 FAH 基因复合杂合突变的遗传性酪氨酸血症 I 型患者中生成诱导性多能干细胞系 SDQLCHi026-A

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作者:Haiyan Zhang, Chen Liu, Yanyan Ma, Lin Lin, Yuqiang Lv, Min Gao, Zhongtao Gai, Yi Liu

Abstract

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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