Generation of an induced pluripotent stem cell line (CIMAi001-A) from a compound heterozygous Primary Hyperoxaluria Type I (PH1) patient carrying p.G170R and p.R122* mutations in the AGXT gene.
Generation of an induced pluripotent stem cell line (CIMAi001-A) from a compound heterozygous Primary Hyperoxaluria Type I (PH1) patient carrying p.G170R and p.R122* mutations in the AGXT gene.
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从携带 AGXT 基因 p G170R 和 p R122* 突变的复合杂合原发性高草酸尿症 I 型 (PH1) 患者中产生诱导多能干细胞系 (CIMAi001-A)
DOI：
10.1016/j.scr.2019.101626
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发表时间：
2019
影响因子：
1.2
通讯作者：
Rodriguez-Madoz JR
中科院分区：
文献类型：
--
作者：
Martinez-Turrillas R;Rodriguez-Diaz S;Rodriguez-Marquez P;Martin-Mallo A;Salido E;Beck BB;Prosper F;Rodriguez-Madoz JR
原发性高草酸尿症I型(PH1)是一种罕见的常染色体隐性代谢性疾病，其特征是乙醛代谢相关酶的缺陷。PH1是一种由于肝丙氨酸乙二酸氨基转移酶(AGT)酶缺失、缺失或定位错误而导致的危及生命的疾病。人诱导多能干细胞(IPSC)系从一例PH1患者的皮肤成纤维细胞中产生的，该细胞是最常见的突变c.508G>；A(G170R)和之前报道的AGTX无义突变c.364C>；T(R122*)的复合杂合子。该IPSC系为研究疾病的病理生理学提供了有用的资源，并为药物开发提供了一个基于细胞的模型。
Primary Hyperoxaluria Type I (PH1) is a rare autosomal recessive metabolic disorder characterized by defects in enzymes involved in glyoxylate metabolism. PH1 is a life-threatening disease caused by the absence, deficiency or mistargeting of the hepatic alanine-glyoxylate aminotransferase (AGT) enzyme. A human induced pluripotent stem cell (iPSC) line was generated from dermal fibroblasts of a PH1 patient being compound heterozygous for the most common mutation c.508G>A (G170R), a mistargeting mutation, and c.364C>T (R122*), a previously reported nonsense mutation in AGTX. This iPSC line offers a useful resource to study the disease pathophysiology and a cell-based model for drug development.
来自具有 p.I244T 突变的原发性高草酸尿症 I 型患者的人 iPSC 系的生成和表征。
影响因子：
1.2
作者：
N. Zapata;Saray Rodriguez;E. Salido;G. Abizanda;E. Iglesias;F. Prósper;G. González;J. R. Rodríguez
通讯作者：
J. R. Rodríguez