从一名 Gitelman 综合征患者中诱导生成人多能干细胞系（CMCi002-A）。

Generation of a human induced pluripotent stem cell line (CMCi002-A) from a patient with Gitelman's syndrome.

机构信息

Convergent Research Consortium for Immunologic Disease, Seoul St. Mary's Hospital, The College of Medicine, The Catholic University of Korea, 222 Banpo-daero Seocho-gu, Seoul 06591, Republic of Korea; Transplant Research Center, The College of Medicine, The Catholic University of Korea, 222 Banpo-daero Seocho-gu, Seoul 06591, Republic of Korea; Division of Nephrology, Department of Internal Medicine, Seoul St. Mary's Hospital, The College of Medicine, The Catholic University of Korea, 222 Banpo-daero Seocho-gu, Seoul 06591, Republic of Korea.

出版信息

Stem Cell Res. 2020 Dec;49:102110. doi: 10.1016/j.scr.2020.102110. Epub 2020 Dec 4.

DOI:10.1016/j.scr.2020.102110

PMID:33370877

Abstract

We established a human induced pluripotent stem cells (hiPSC) line (CMCi002-A) from peripheral blood mononuclear cells (PBMCs) of 29-year-old male with Gitelman's syndrome (GIT) caused by the mutation of solute carrier family 12 member 3 (SLC12A3) gene using Sendai virus. The GIT-hiPSCs showed a typical human embryonic stem cell like morphology and expressed all pluripotency-associated markers, exhibited normal karyotype and were capable of differentiating into cells representative of three germ layers.

摘要

我们使用 Sendai 病毒，从一名 29 岁患有 Gitelman 综合征（由溶质载体家族 12 成员 3（SLC12A3）基因突变引起）的男性外周血单核细胞（PBMC）中建立了一个人诱导多能干细胞（hiPSC）系（CMCi002-A）。GIT-hiPSCs 呈现出典型的人类胚胎干细胞样形态，表达所有多能性相关标志物，具有正常核型，并能分化为三个胚层代表性细胞。