从一名患有X连锁Alport综合征的患者建立诱导多能干细胞系，该患者在IV型胶原α5链基因中携带半合子剪接变体（NM_033380；c.929[外显子16]delG）。
Establishment of an induced pluripotent stem cell line from a patient with X-linked Alport syndrome carrying a hemizygous splicing variant (NM_033380; c.929[exon 16]delG) in the collagen type IV alpha 5 chain gene.
作者信息
Zhang Denglu, Li KaiLin, Yang XianZhen, Wang Haitao, Yu Xin
机构信息
Central Laboratory, Affiliated Hospital of Shandong University of Traditional Chinese Medicine, Jinan 250014, China; Shandong Key Laboratory of Dominant Diseases of Traditional Chinese Medicine, Affiliated Hospital of Shandong University of Traditional Chinese Medicine, Jinan 250014,China.
Central Research Laboratory, Institute of Medical Science, The Second Hospital, Cheeloo College of Medicine, Shandong University, Jinan 250033, China.
出版信息
Stem Cell Res. 2024 Oct;80:103488. doi: 10.1016/j.scr.2024.103488. Epub 2024 Jul 2.
X-linked hereditary Alport syndrome (XLAS) type 1 (OMIM: 301050) results from a pathogenic variant in the collagen type IV alpha 5 chain (COL4A5) gene.A human induced pluripotent stem cell (iPSC) line was generated from peripheral blood mononuclear cells of a 7-year-old male patient with XLAS using non-integrating episomal vector technique. The male donor had a heterozygous variant in the COL4A5 gene. The resulting iPSC line has a standard karyotype, can express pluripotent biomarkers, and is able to create germ layers in vivo. It can serve as a valuable cellular model for investigating the underlying mechanisms of XLAS.
X连锁遗传性奥尔波特综合征1型（XLAS，OMIM：301050）由IV型胶原α5链（COL4A5）基因的致病性变异引起。使用非整合型附加体质粒载体技术，从一名7岁XLAS男性患者的外周血单个核细胞中生成了人诱导多能干细胞（iPSC）系。该男性供体的COL4A5基因存在杂合变异。所得的iPSC系具有标准核型，可表达多能性生物标志物，并能够在体内形成胚层。它可作为研究XLAS潜在机制的宝贵细胞模型。
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