Scholarlink

Abstract <p>Spinocerebellar ataxia type 27B (SCA27B) is a hereditary ataxia caused by a pathogenic expansion of GAA repeats (&gt;250) in the first intron of the <i>FGF14</i> gene, which encodes fibroblast growth factor 14. The clinical presentation includes slowly progressive cerebellar ataxia, often combined with sensory or sensorimotor neuropathy, bilateral vestibulopathy, nystagmus, paroxysmal diplopia, dizziness, and characteristic atrophy of the cerebellar vermis and hemispheres. To study the pathogenic mechanisms of SCA27B in a cellular model, we generated induced pluripotent stem cell (iPSC) (lines RCPCMi016-A and RCPCMi016-B) from fibroblasts of a patient with an expansion of GAA repeats in the <i>FGF14</i> gene. The iPSCs exhibited typical pluripotent stem cell morphology and expression of pluripotency markers. Pluripotency was confirmed by differentiation into derivates of all three germ layers. The iPSC lines displayed normal karyotype (46,XX).</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

Derivation of Induced Pluripotent Stem Cell Lines RCPCMi016-A and RCPCMi016-B by Reprogramming Dermal Fibroblasts from a Patient with Spinocerebellar Ataxia Type 27B

  • 期刊论文

  • 发表日期：

    2025年12月1日

查看全文
  • A. V. Spaselnikova,
  • E. A. Balezina,
  • M. Yu. Sharikova,
  • E. A. Volovikov,
  • T. V. Limanskaya,
  • V. V. Nenasheva,
  • E. A. Stepanenko,
  • T. P. Gerasimova,
  • E. V. Novosadova,
  • M. E. Bogomyakova,
  • E. A. Zerkalenkova,
  • E. P. Nuzhnyi,
  • A. N. Bogomazova,
  • O. S. Lebedeva,
  • M. A. Lagarkova,
  • S. N. Illarioshkin

摘要

Abstract

Spinocerebellar ataxia type 27B (SCA27B) is a hereditary ataxia caused by a pathogenic expansion of GAA repeats (>250) in the first intron of the FGF14 gene, which encodes fibroblast growth factor 14. The clinical presentation includes slowly progressive cerebellar ataxia, often combined with sensory or sensorimotor neuropathy, bilateral vestibulopathy, nystagmus, paroxysmal diplopia, dizziness, and characteristic atrophy of the cerebellar vermis and hemispheres. To study the pathogenic mechanisms of SCA27B in a cellular model, we generated induced pluripotent stem cell (iPSC) (lines RCPCMi016-A and RCPCMi016-B) from fibroblasts of a patient with an expansion of GAA repeats in the FGF14 gene. The iPSCs exhibited typical pluripotent stem cell morphology and expression of pluripotency markers. Pluripotency was confirmed by differentiation into derivates of all three germ layers. The iPSC lines displayed normal karyotype (46,XX).