Generation of induced pluripotent stem cell line (RCMGi012-A) from fibroblasts of patient with mucopolysaccharidosis type VI

Ekaterina Kondrateva; Olga Grigorieva; Irina Panchuk; Igor Bychkov; Ekaterina Zakharova; Vyacheslav Tabakov; Victoria Pozhitnova; Ekaterina Voronina; Olga Shchagina; Alexander Lavrov; Svetlana Smirnikhina; Sergey Kutsev

Stem Cell Research (Dec 2023)

Generation of induced pluripotent stem cell line (RCMGi012-A) from fibroblasts of patient with mucopolysaccharidosis type VI

Ekaterina Kondrateva,
Olga Grigorieva,
Irina Panchuk,
Igor Bychkov,
Ekaterina Zakharova,
Vyacheslav Tabakov,
Victoria Pozhitnova,
Ekaterina Voronina,
Olga Shchagina,
Alexander Lavrov,
Svetlana Smirnikhina,
Sergey Kutsev

Affiliations

Ekaterina Kondrateva: Corresponding author.; Research Centre for Medical Genetics, Moscow 115522, Russian Federation
Olga Grigorieva: Research Centre for Medical Genetics, Moscow 115522, Russian Federation
Irina Panchuk: Research Centre for Medical Genetics, Moscow 115522, Russian Federation
Igor Bychkov: Research Centre for Medical Genetics, Moscow 115522, Russian Federation
Ekaterina Zakharova: Research Centre for Medical Genetics, Moscow 115522, Russian Federation
Vyacheslav Tabakov: Research Centre for Medical Genetics, Moscow 115522, Russian Federation
Victoria Pozhitnova: Research Centre for Medical Genetics, Moscow 115522, Russian Federation
Ekaterina Voronina: Research Centre for Medical Genetics, Moscow 115522, Russian Federation
Olga Shchagina: Research Centre for Medical Genetics, Moscow 115522, Russian Federation
Alexander Lavrov: Research Centre for Medical Genetics, Moscow 115522, Russian Federation
Svetlana Smirnikhina: Research Centre for Medical Genetics, Moscow 115522, Russian Federation
Sergey Kutsev: Research Centre for Medical Genetics, Moscow 115522, Russian Federation

Journal volume & issue: Vol. 73
p. 103259

Abstract

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Skin fibroblasts obtained from a 5-year-old girl with genetically proven (two heterozygous mutations in ARSB gene) and clinically manifested mucopolysaccharidosis type VI were successfully transformed into induced pluripotent stem cells by using Sendai virus-based reprogramming vectors including the four Yamanaka factors namely SOX2, OCT3/4, KLF4, and c-MYC. These iPSCs expressed pluripotency markers, had a normal karyotype and the potential to differentiate into three germ layers in spontaneous differentiation assay. The line may be used for cell differentiation and pharmacological investigations, and also may provide a model for development of a personalized treatment including drug screening and genome editing.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

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