The use of simultaneous reprogramming and gene correction to generate an osteogenesis imperfecta patient COL1A1 c. 3936 G>T iPSC line and an isogenic control iPSC line.
Journal
Stem cell research
ISSN: 1876-7753
Titre abrégé: Stem Cell Res
Pays: England
ID NLM: 101316957
Informations de publication
Date de publication:
07 2019
07 2019
Historique:
received:
17
03
2019
revised:
23
04
2019
accepted:
29
04
2019
pubmed:
15
5
2019
medline:
22
4
2020
entrez:
15
5
2019
Statut:
ppublish
Résumé
To develop a disease model for the human 'brittle bone' disease, osteogenesis imperfecta, we used a simultaneous reprogramming and CRISPR-Cas9 genome editing method to produce an iPSC line with the heterozygous patient mutation (COL1A1 c. 3936 G>T) along with an isogenic gene-corrected control iPSC line. Both IPSC lines had a normal karyotype, expressed pluripotency markers and differentiated into cells representative of the three embryonic germ layers. This osteogenesis imperfecta mutant and isogenic iPSC control line will be of use in exploring disease mechanisms and therapeutic approaches in vitro.
Identifiants
pubmed: 31082677
pii: S1873-5061(19)30083-2
doi: 10.1016/j.scr.2019.101453
pii:
doi:
Substances chimiques
Collagen Type I
0
Collagen Type I, alpha 1 Chain
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
101453Informations de copyright
Copyright © 2019 The Authors. Published by Elsevier B.V. All rights reserved.