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Abstract <p>Induced pluripotent stem cells (iPSCs) were generated from skin fibroblasts isolated from a healthy woman carrying a mutation in <i>G6PC</i> gene, and from a proband with a clinically and genetically confirmed diagnosis of glycogen storage disease type Ia (<i>G6PC</i>:c.247C&gt;T, p.R83C). The fibroblasts were reprogrammed using non-integrative Sendai viral vectors containing the reprogramming factors <i>OCT4, SOX2, KLF4</i> and <i>C‑MYC</i>. iPSCs have been shown to express pluripotency markers: OCT4, SSEA4, SOX2 and NANOG. The ability to differentiate into three germ layers was observed in both cell lines (RCMGi015-A: beta III Tubulin, Vimentin, AFP, and RCMGi016-A: beta III Tubulin, Brachyury, FOXA2), cell lines have a normal karyotype (46,XX). Generated iPSC lines can be used for personalized therapy (genome editing) and modelling of glycogen storage disease type Ia.</p>

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Generation of iPSC Lines from Family with Glycogen Storage Disease Type Ia

  • 期刊论文

  • 发表日期：

    2025年2月1日

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  • I. O. Panchuk,
  • O. V. Grigorieva,
  • E. V. Kondrateva,
  • E. V. Kurshakova,
  • I. O. Petrova,
  • E. S. Voronina,
  • V. O. Pozhitnova,
  • O. A. Shchagina,
  • V. Yu. Tabakov,
  • T. V. Strokova,
  • A. V. Lavrov,
  • S. A. Smirnikhina,
  • S. I. Kutsev

摘要

Abstract

Induced pluripotent stem cells (iPSCs) were generated from skin fibroblasts isolated from a healthy woman carrying a mutation in G6PC gene, and from a proband with a clinically and genetically confirmed diagnosis of glycogen storage disease type Ia (G6PC:c.247C>T, p.R83C). The fibroblasts were reprogrammed using non-integrative Sendai viral vectors containing the reprogramming factors OCT4, SOX2, KLF4 and C‑MYC. iPSCs have been shown to express pluripotency markers: OCT4, SSEA4, SOX2 and NANOG. The ability to differentiate into three germ layers was observed in both cell lines (RCMGi015-A: beta III Tubulin, Vimentin, AFP, and RCMGi016-A: beta III Tubulin, Brachyury, FOXA2), cell lines have a normal karyotype (46,XX). Generated iPSC lines can be used for personalized therapy (genome editing) and modelling of glycogen storage disease type Ia.