Generation of the induced pluripotent stem cell line (NCKDi004-A) from a 17-year-old patient with Alport syndrome carrying a homozygous mutation in COL4A3 gene

•An iPSC line from an Alport syndrome patient with ahomozygous mutation (c.3G > A) in COL4A3.•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 syn...

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Bibliographic Details
Published inStem cell research Vol. 56; p. 102557
Main Authors Wu, Hangdi, Wang, Gang, Gao, Erzhi, Zhang, Li, Zhu, Yuqing, Zhang, Jin, Liu, Zhihong
Format Journal Article
LanguageEnglish
Published England Elsevier B.V 01.10.2021
Elsevier
Subjects
Adolescent
Autoantigens - genetics
Collagen Type IV - genetics
Humans
Induced Pluripotent Stem Cells
Leukocytes, Mononuclear
Mutation
Nephritis, Hereditary - genetics
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Summary:•An iPSC line from an Alport syndrome patient with ahomozygous mutation (c.3G > A) in COL4A3.•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 the second most common genetic renal disease which caused by mutations in COL4A3/COL4A4/COL4A5, according to different modes of inheritance. Recently, we identified a novel homozygous mutation in COL4A3 gene in a patient with Alport syndrome. The Peripheral Blood Mononuclear Cells (PBMCs) of the patient were obtained and a line of induced pluripotent stem cells (iPSCs) was successfully generated. The iPSC line will be useful for further study of the pathogenesis and drug screening for Alport syndrome.
ISSN:1873-5061
1876-7753
DOI:10.1016/j.scr.2021.102557