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

Hangdi Wu; Gang Wang; Erzhi Gao; Li Zhang; Yuqing Zhu; Jin Zhang; Zhihong Liu

doi:10.1016/j.scr.2021.102557

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

Stem Cell Res. 2021 Oct:56:102557. doi: 10.1016/j.scr.2021.102557. Epub 2021 Sep 30.

Authors

Hangdi Wu¹, Gang Wang², Erzhi Gao², Li Zhang³, Yuqing Zhu³, Jin Zhang⁴, Zhihong Liu⁵

Affiliations

¹ Zhejiang University School of Medicine, Hangzhou, Zhejiang 310058, China.
² National Clinical Research Center of Kidney Diseases, Jinling Hospital, Nanjing University School of Medicine, Nanjing, Jiangsu, China.
³ Center for Stem Cell and Regenerative Medicine, Department of Basic Medical Sciences & The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310058, China; Hematology Institute, Zhejiang University, Hangzhou, Zhejiang 310058, China.
⁴ Center for Stem Cell and Regenerative Medicine, Department of Basic Medical Sciences & The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310058, China; Hematology Institute, Zhejiang University, Hangzhou, Zhejiang 310058, China; Zhejiang Laboratory for Systems and Precision Medicine, Zhejiang University Medical Center, 1369 West Wenyi Road, Hangzhou 311121, China. Electronic address: [email protected].
⁵ Zhejiang University School of Medicine, Hangzhou, Zhejiang 310058, China; National Clinical Research Center of Kidney Diseases, Jinling Hospital, Nanjing University School of Medicine, Nanjing, Jiangsu, China; Zhejiang Laboratory for Systems and Precision Medicine, Zhejiang University Medical Center, 1369 West Wenyi Road, Hangzhou 311121, China. Electronic address: [email protected].

PMID: 34626894
DOI: 10.1016/j.scr.2021.102557

Abstract

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Autoantigens* / genetics
Collagen Type IV* / genetics
Humans
Induced Pluripotent Stem Cells*
Leukocytes, Mononuclear
Mutation
Nephritis, Hereditary* / genetics

Substances

Autoantigens
Collagen Type IV
type IV collagen alpha3 chain