Establishment of the induced pluripotent stem cell line (NCKDi005-A) from a male patient with Alport syndrome carrying a homozygous frameshift mutation in the COL4A4 gene

• Published in: Stem cell research Vol. 58; p. 102628
• Main Authors: Wang, Gang, Gao, Erzhi, Wu, Hangdi, Zhang, Li, Zhu, Yuqing, Zhang, Jin, Liu, Zhihong
• Format: Journal Article
• Language: English
• Published: England Elsevier B.V 01.01.2022; Elsevier
• Subjects: Autoantigens - genetics; Collagen Type IV - genetics; Frameshift Mutation; Humans; Induced Pluripotent Stem Cells - pathology; Leukocytes, Mononuclear - pathology; Male; Mutation - genetics; Nephritis, Hereditary - genetics; Pedigree
• ISSN: 1873-5061; 1876-7753
• DOI: 10.1016/j.scr.2021.102628

•An iPSC line from an Alport syndrome patient with ahomozygous mutation (c.1221_1222insTGCAGGCATGATAGGACCCCCT) in COL4A4.•Confirmation of the pluripotency and cell line identity of this iPSC line.•This iPSC line will be useful for disease modeling and help to better understand the pathogenesis of Alport syndrome. Alport syndrome is an inherited chronic kidney disease with genetic heterogeneity. There are three modes of inheritance: X-linked dominant inheritance, autosomal recessive inheritance, and autosomal dominant inheritance. Autosomal recessive inheritance accounts for about 14%–15% of all cases of Alport syndrome and is caused by the COL4A3 or COL4A4 gene mutation. In this study, the peripheral blood mononuclear cells (PBMCs) of a patient with a novel COL4A4 homozygous mutation were reprogrammed into an induced pluripotent stem cell (iPSC) line. The iPSC line can provide a cell model for studying the pathogenesis of the disease and drug screening.