从一位 X 连锁 Alport 综合征患者中生成诱导多能干细胞系 (GWCMCi002-A)，该患者在 COL4A5 基因中存在杂合剪接突变 (NM_000495.4, c. 1517-1 G > T)。
Generation of an iPSC line (GWCMCi002-A) from an X-linked Alport syndrome patient with a hemizygous splicing mutation (NM_000495.4, c. 1517-1 G > T) in the COL4A5 gene.
机构信息
Nephrology Department, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, Guangdong 510623, China.
Nephrology Department, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, Guangdong 510623, China.
出版信息
Stem Cell Res. 2021 May;53:102388. doi: 10.1016/j.scr.2021.102388. Epub 2021 May 11.
Pathogenic mutations in the COL4A5 gene are the main causes of X-Linked Alport Syndrome (XLAS). Here, to better understand the pathogenic mechanism of XLAS, we generated an iPSC line (GWCMCi002-A) from the peripheral blood mononuclear cells (PBMCs) of an 8-year-old male XLAS patient with a hemizygous splicing mutation (NM_000495.4, c. 1517-1 G > T) in the COL4A5 gene. This cell line will be beneficial for the study of the pathogenic mechanism of XLAS and the development of treatment strategies.
COL4A5 基因突变是 X 连锁型 Alport 综合征（XLAS）的主要病因。在此，我们从一位 8 岁男性 XLAS 患者的外周血单核细胞（PBMCs）中生成了一个诱导多能干细胞系（GWCMCi002-A），该患者携带 COL4A5 基因的一个杂合剪接突变（NM_000495.4，c.1517-1 G>T）。该细胞系将有助于研究 XLAS 的致病机制和开发治疗策略。
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