2. Academic Validation
  3. Generation of a transgenic pluripotent stem cell line expressing MMACHC protein harbouring the renal 2 thrombotic microangiopapathy-causing mutation (p.Q27R)

Generation of a transgenic pluripotent stem cell line expressing MMACHC protein harbouring the renal 2 thrombotic microangiopapathy-causing mutation (p.Q27R)

  • Stem Cell Res. 2025 Sep 22:89:103843. doi: 10.1016/j.scr.2025.103843.
Zhiqi Zhou 1,  Xiao'e Zhang 2,  Cuilan Hou 3,  Ying Wu 4
Affiliations

Affiliations

  • 1 Department of Pathology, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai 200062, China.
  • 2 Department of Nephrology and Rheumatology, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai 200062, China.
  • 3 Department of Cardiology, Shanghai Children's Hospital, School of Medicine, Shanghai Jiaotong University, No. 355 Luding Road, Shanghai 200062, China. Electronic address: houcuilan@shchildren.com.cn.
  • 4 Department of Pathology, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai 200062, China; Department of Nephrology and Rheumatology, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai 200062, China. Electronic address: wuy@shchildren.com.cn.
PMID: 41052500 DOI: 10.1016/j.scr.2025.103843
Abstract

Mutations in the MMACHC (metabolism of cobalamin associated C) gene are associated with cobalamin C disorder and have been reported in infants with renal thrombotic microangiopaopathy (TMA). The pathophysiology underlying these mutations and their role in causing endothelial damage remains elusive. We generated a transgenic pluripotent stem cell (iPSC) line expressing MMACHC protein harbouring the renal 2 thrombotic microangiopapathy-causing mutation (p.Q27R). The iPSC exhibits a typical stem cell morphology, expresses pluripotency markers, and displays a normal karyotype. The iPSC line provides a valuable platform for exploring the pathogenesis of endothelial injury induced by metabolism-mediated TMA and for screening drugs to reduce endothelial damage.

Figures
Products
嗨！很高兴为您提供帮助！

尊敬的 MCE 客户您好，
请您选择所在区域，我们将转接对应客服为您服务！

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z

热 A B C F G H J L N Q S T X Y Z