Literature DB >> 34087979

Generation of induced pluripotent stem cell line (ZZUi0021-A) from a patient with spinocerebellar ataxia type 19.

Fen Liu1, Yu Fan1, Liyuan Fan1, Mengjie Li1, Qimeng Zhang1, Chengyuan Mao1, Jun Wu1, Shuo Zhang1, Zhengwei Hu1, Changhe Shi2, Yuming Xu3.   

Abstract

Spinocerebellar ataxia type 19 (SCA19) is an extremely rare autosomal dominant cerebellar ataxia hereditary that caused by the KCND3 gene mutation. And has a complex pathogenesis. At present, its pathogenesis is still unclear, and there is no effective treatment for SCA19. So, to study its pathogenesis and find effective treatments, we collected the fifibroblasts from a patient with SCA19, then successfully transformed the fifibroblasts into induced pluripotent stem cells (iPSCs) and construct a SCA19 pathological cell mode. This study provides a basis for elucidating its pathogenesis and providing new treatment options.
Copyright © 2021 The Authors. Published by Elsevier B.V. All rights reserved.

Entities:  

Year:  2021        PMID: 34087979     DOI: 10.1016/j.scr.2021.102320

Source DB:  PubMed          Journal:  Stem Cell Res        ISSN: 1873-5061            Impact factor:   2.020


  1 in total

1.  Rare KCND3 Loss-of-Function Mutation Associated With the SCA19/22.

Authors:  Mengjie Li; Fen Liu; Xiaoyan Hao; Yu Fan; Jiadi Li; Zhengwei Hu; Jingjing Shi; Liyuan Fan; Shuo Zhang; Dongrui Ma; Mengnan Guo; Yuming Xu; Changhe Shi
Journal:  Front Mol Neurosci       Date:  2022-06-23       Impact factor: 6.261

  1 in total

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