建立一株源于 1 型家族性糖皮质激素缺乏症患者的人诱导多能干细胞系 SDQLCHi029-A，该患者携带 MC2R 基因的复合杂合突变。
Establishment of human induced pluripotent stem cell line SDQLCHi029-A from one Type 1 familial glucocorticoid deficiency patient carrying compound heterozygote mutations in MC2R gene.
机构信息
Pediatric Research Institute, Children's Hospital Affiliated to Shandong University (Jinan Children's Hospital), Jinan, Shandong 250022, China; Department of Neonatology, Children's Hospital Affiliated to Shandong University (Jinan Children's Hospital), Jinan, Shandong 250022, China.
Department of Neonatology, Children's Hospital Affiliated to Shandong University (Jinan Children's Hospital), Jinan, Shandong 250022, China; Shandong Provincial Clinical Research Center for Children's Health and Disease, Jinan 250022, China.
出版信息
Stem Cell Res. 2024 Apr;76:103368. doi: 10.1016/j.scr.2024.103368. Epub 2024 Feb 27.
Type 1 familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder due to variation of the melanocortin-2-receptor (MC2R) gene. Induced pluripotent stem cell (iPSC) line SDQLCHi029-A was successfully generated from peripheral blood mononuclear cells obtained from a 5-day-old girl with MC2R mutations (c.428C > T and c.409C > T). The iPSC line showed genetically stable and matched the donor's PBMCs. displayed a normal karyotype, expressed high pluripotent markers, and exhibited differentiation potential of three germ layers in vitro. The iPSC line could be a good model to study the pathogenesis of FGD type 1 and screen new drugs for the disease.
1 型家族性糖皮质激素缺乏症（FGD）是一种罕见的常染色体隐性遗传疾病，由黑素皮质素-2 受体（MC2R）基因突变引起。我们成功地从一名患有 MC2R 突变（c.428C>T 和 c.409C>T）的 5 天大女婴外周血单核细胞中诱导产生了多能干细胞（iPSC）系 SDQLCHi029-A。该 iPSC 系遗传稳定，与供者的 PBMC 相匹配。该细胞系具有正常核型，表达高水平的多能标志物，并在体外表现出三胚层分化潜能。该 iPSC 系可作为研究 1 型 FGD 发病机制和筛选该疾病新药的良好模型。
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