Generation of induced pluripotent stem cells from a Becker muscular dystrophy patient carrying a deletion of exons 45-55 of the dystrophin gene (CCMi002BMD-A-9 ∆45-55)

Research output: Contribution to journalArticle

Abstract

Becker muscular dystrophy (BMD) is a dystrophinopathy caused by mutations in the dystrophin gene on chromosome Xp21. BMD mutations result in truncated semi-functional dystrophin isoforms. Consequently, less severe clinical symptoms become apparent later in life compared to Duchenne muscular dystrophy. Dermal fibroblasts from a BMD patient were electroporated with episomal plasmids containing reprogramming factors to create the induced pluripotent stem cell line: CCMi002BMD-A-9 that showed pluripotent markers, were karyotypically normal and capable of trilineage differentiation. MLPA analyses performed on DNA extracted from CCMi002BMD-A-9 showed an in-frame deletion of exons 45 to 55 (CCMi002BMD-A-9 Δ45-55).

Original languageEnglish
Pages (from-to)21-24
Number of pages4
JournalStem Cell Research
Volume28
DOIs
Publication statusPublished - Apr 2018

Fingerprint

Induced Pluripotent Stem Cells
Dystrophin
Duchenne Muscular Dystrophy
Exons
Genes
Mutation
Protein Isoforms
Plasmids
Fibroblasts
Chromosomes
Cell Line
Skin
DNA

Keywords

  • Adult
  • Cell Culture Techniques/methods
  • Dystrophin/genetics
  • Exons/genetics
  • Humans
  • Induced Pluripotent Stem Cells/metabolism
  • Male
  • Muscular Dystrophy, Duchenne/genetics
  • Sequence Deletion/genetics

Cite this

@article{4f659707625e4da3b3160a07c77ab462,
title = "Generation of induced pluripotent stem cells from a Becker muscular dystrophy patient carrying a deletion of exons 45-55 of the dystrophin gene (CCMi002BMD-A-9 ∆45-55)",
abstract = "Becker muscular dystrophy (BMD) is a dystrophinopathy caused by mutations in the dystrophin gene on chromosome Xp21. BMD mutations result in truncated semi-functional dystrophin isoforms. Consequently, less severe clinical symptoms become apparent later in life compared to Duchenne muscular dystrophy. Dermal fibroblasts from a BMD patient were electroporated with episomal plasmids containing reprogramming factors to create the induced pluripotent stem cell line: CCMi002BMD-A-9 that showed pluripotent markers, were karyotypically normal and capable of trilineage differentiation. MLPA analyses performed on DNA extracted from CCMi002BMD-A-9 showed an in-frame deletion of exons 45 to 55 (CCMi002BMD-A-9 Δ45-55).",
keywords = "Adult, Cell Culture Techniques/methods, Dystrophin/genetics, Exons/genetics, Humans, Induced Pluripotent Stem Cells/metabolism, Male, Muscular Dystrophy, Duchenne/genetics, Sequence Deletion/genetics",
author = "Aoife Gowran and Gabriella Spaltro and Federica Casalnuovo and Vera Vigorelli and Pietro Spinelli and Elisa Castiglioni and Davide Rovina and Stefania Paganini and {Di Segni}, Marina and Cristina Gervasini and Patrizia Nigro and Giulio Pompilio",
note = "Copyright {\circledC} 2018 The Author(s). Published by Elsevier B.V. All rights reserved.",
year = "2018",
month = "4",
doi = "10.1016/j.scr.2018.01.025",
language = "English",
volume = "28",
pages = "21--24",
journal = "Stem Cell Research",
issn = "1873-5061",
publisher = "Elsevier",

}

TY - JOUR

T1 - Generation of induced pluripotent stem cells from a Becker muscular dystrophy patient carrying a deletion of exons 45-55 of the dystrophin gene (CCMi002BMD-A-9 ∆45-55)

AU - Gowran, Aoife

AU - Spaltro, Gabriella

AU - Casalnuovo, Federica

AU - Vigorelli, Vera

AU - Spinelli, Pietro

AU - Castiglioni, Elisa

AU - Rovina, Davide

AU - Paganini, Stefania

AU - Di Segni, Marina

AU - Gervasini, Cristina

AU - Nigro, Patrizia

AU - Pompilio, Giulio

N1 - Copyright © 2018 The Author(s). Published by Elsevier B.V. All rights reserved.

PY - 2018/4

Y1 - 2018/4

N2 - Becker muscular dystrophy (BMD) is a dystrophinopathy caused by mutations in the dystrophin gene on chromosome Xp21. BMD mutations result in truncated semi-functional dystrophin isoforms. Consequently, less severe clinical symptoms become apparent later in life compared to Duchenne muscular dystrophy. Dermal fibroblasts from a BMD patient were electroporated with episomal plasmids containing reprogramming factors to create the induced pluripotent stem cell line: CCMi002BMD-A-9 that showed pluripotent markers, were karyotypically normal and capable of trilineage differentiation. MLPA analyses performed on DNA extracted from CCMi002BMD-A-9 showed an in-frame deletion of exons 45 to 55 (CCMi002BMD-A-9 Δ45-55).

AB - Becker muscular dystrophy (BMD) is a dystrophinopathy caused by mutations in the dystrophin gene on chromosome Xp21. BMD mutations result in truncated semi-functional dystrophin isoforms. Consequently, less severe clinical symptoms become apparent later in life compared to Duchenne muscular dystrophy. Dermal fibroblasts from a BMD patient were electroporated with episomal plasmids containing reprogramming factors to create the induced pluripotent stem cell line: CCMi002BMD-A-9 that showed pluripotent markers, were karyotypically normal and capable of trilineage differentiation. MLPA analyses performed on DNA extracted from CCMi002BMD-A-9 showed an in-frame deletion of exons 45 to 55 (CCMi002BMD-A-9 Δ45-55).

KW - Adult

KW - Cell Culture Techniques/methods

KW - Dystrophin/genetics

KW - Exons/genetics

KW - Humans

KW - Induced Pluripotent Stem Cells/metabolism

KW - Male

KW - Muscular Dystrophy, Duchenne/genetics

KW - Sequence Deletion/genetics

U2 - 10.1016/j.scr.2018.01.025

DO - 10.1016/j.scr.2018.01.025

M3 - Article

VL - 28

SP - 21

EP - 24

JO - Stem Cell Research

JF - Stem Cell Research

SN - 1873-5061

ER -