来自一名患有法布里病的女性和男性患者的人诱导多能干细胞系（CMCi006 - A和CMCi007 - A），他们携带相同的移码缺失突变。
Human-induced pluripotent stem cell lines (CMCi006-A and CMCi007-A) from a female and male patient with Fabry disease carrying the same frameshift deletion mutation.
作者信息
Cui Sheng, Shin Yoo Jin, Ko Eun Jeong, Lim Sun Woo, Ju Ji Hyeon, Lee Kang In, Lee Jae Young, Yang Chul Woo, Chung Byung Ha
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.
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. 2021 Mar;51:102214. doi: 10.1016/j.scr.2021.102214. Epub 2021 Jan 30.
Human-induced pluripotent stem cell lines (hiPSCs) derived from the peripheral blood mononuclear cells (PBMCs) of a woman (CMCi007-A) and her son (CMCi006-A) diagnosed with Fabry disease (FD) caused by the frameshift deletion mutation c.969delC in the alpha-galactosidase A (GLA) gene were generated. These hiPSCs showed typical human embryonic stem cell-like morphology and expressed pluripotency-associated markers, and directly differentiated into all three germ-layers. Karyotyping showed normal 46, XY (CMCi006-A) and 46, XX (CMCi007-A). In summary, we generated novel patient-specific hiPSC lines from both a female and male containing the same mutation, which may provide additional insight into the pathophysiology of FD.
我们从一名被诊断患有法布里病（FD）的女性（CMCi007-A）及其儿子（CMCi006-A）的外周血单个核细胞（PBMC）中获得了人诱导多能干细胞系（hiPSC），该疾病由α-半乳糖苷酶A（GLA）基因中的移码缺失突变c.969delC引起。这些hiPSC呈现出典型的人类胚胎干细胞样形态，表达多能性相关标志物，并直接分化为所有三个胚层。核型分析显示正常的46, XY（CMCi006-A）和46, XX（CMCi007-A）。总之，我们从一名女性和一名男性中获得了含有相同突变的新型患者特异性hiPSC系，这可能为FD的病理生理学提供更多见解。
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