Fibroblast-derived integration-free iPSC line ISRM-NBS1 from an 18-year-old Nijmegen Breakage Syndrome patient carrying the homozygous NBN c.657_661del5 mutation.


Journal

Stem cell research
ISSN: 1876-7753
Titre abrégé: Stem Cell Res
Pays: England
ID NLM: 101316957

Informations de publication

Date de publication:
01 2019
Historique:
received: 13 11 2018
accepted: 17 12 2018
pubmed: 8 1 2019
medline: 7 8 2019
entrez: 8 1 2019
Statut: ppublish

Résumé

Human fibroblasts cells from a female diagnosed with Nijmegen Breakage Syndrome (NBS) carrying the homozygous NBN c.657_661del5 mutation were used to generate integration-free induced pluripotent stem cells (iPSCs) by over-expressing episomal-based plasmids harbouring OCT4, SOX2, NANOG, KLF4, c-MYC and LIN28. The derived iPSC line - ISRM-NBS1 was defined as pluripotent based on (i) expression of pluripotency-associated markers (ii) embryoid body-based differentiation into cell types representative of the three germ layers and (iii) the similarity between the transcriptome of the iPSC line and the human embryonic stem cell line H1 with a Pearson correlation of 0.955.

Identifiants

pubmed: 30616142
pii: S1873-5061(18)30307-6
doi: 10.1016/j.scr.2018.101372
pii:
doi:

Substances chimiques

Cell Cycle Proteins 0
KLF4 protein, human 0
Kruppel-Like Factor 4 0
NBN protein, human 0
Nuclear Proteins 0

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Pagination

101372

Informations de copyright

Copyright © 2019 The Authors. Published by Elsevier B.V. All rights reserved.

Auteurs

Soraia Martins (S)

Institute for Stem Cell Research and Regenerative Medicine, Medical Faculty, Heinrich-Heine-University Düsseldorf, Moorenstr. 5, 40225 Düsseldorf, Germany.

Martina Bohndorf (M)

Institute for Stem Cell Research and Regenerative Medicine, Medical Faculty, Heinrich-Heine-University Düsseldorf, Moorenstr. 5, 40225 Düsseldorf, Germany.

Nina Graffmann (N)

Institute for Stem Cell Research and Regenerative Medicine, Medical Faculty, Heinrich-Heine-University Düsseldorf, Moorenstr. 5, 40225 Düsseldorf, Germany.

Wasco Wruck (W)

Institute for Stem Cell Research and Regenerative Medicine, Medical Faculty, Heinrich-Heine-University Düsseldorf, Moorenstr. 5, 40225 Düsseldorf, Germany.

Krystyna H Chrzanowska (KH)

Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland.

James Adjaye (J)

Institute for Stem Cell Research and Regenerative Medicine, Medical Faculty, Heinrich-Heine-University Düsseldorf, Moorenstr. 5, 40225 Düsseldorf, Germany. Electronic address: james.adjaye@med.uni-duesseldorf.de.

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Classifications MeSH