从一名患有 HPRT1 突变引起的莱施-尼汉综合征的患者的 PBMCs 中生成 iPSC 系（SDQLCHi030-A）。
Generation of an iPSC line (SDQLCHi030-A) derived from PBMCs of a patient with Lesch-Nyhan syndrome caused by HPRT1 mutation.
机构信息
Pediatric Research Institute, 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.
Rehabilitation Center, Children's Hospital Affiliated to Shandong University (Jinan Children's Hospital), Jinan, Shandong 250022, China.
出版信息
Stem Cell Res. 2024 Feb;74:103287. doi: 10.1016/j.scr.2023.103287. Epub 2023 Dec 16.
Lesch-Nyhan syndrome (LNS, MIM300322) is a rare inherited disorder caused by mutations in HPRT1 gene. Here we describe the generation of induced pluripotent stem cells (iPSCs) from an infected child carrying the HPRT1 mutation c.508C > T(p.R170X) by reprogramming peripheral blood mononuclear cells (PBMCs) with episomal vectors. The obtained hiPSCs exhibited normal karyotype, expressed pluripotency markers, and possessed trilineage differentiation capacity.
莱施-尼汉综合征（LNS，MIM300322）是一种由 HPRT1 基因突变引起的罕见遗传性疾病。在这里，我们通过用附加型载体重编程外周血单个核细胞（PBMCs），描述了一位携带 HPRT1 突变 c.508C>T(p.R170X)的感染儿童诱导多能干细胞（iPSCs）的产生。获得的 hiPSCs 具有正常核型，表达多能性标记物，并具有三系分化能力。
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