Generation of a heterozygous COL2A1 (p.G1113C) hypochondrogenesis mutation iPSC line, MCRIi019-A-7, using CRISPR/Cas9 gene editing
The human inherited cartilage disease, Hypochondrogenesis, is caused by mutations in the collagen type II gene, COL2A1. To produce an in vitro disease model, we generated a heterozygous patient mutation, COL2A1 p.G1113C, in an established control human induced pluripotent stem cell (iPSC) line, MCRI...
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2021-10-01
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doaj-ca8dc239e69e4516bec920470cf0620e2021-09-19T04:55:32ZengElsevierStem Cell Research1873-50612021-10-0156102515Generation of a heterozygous COL2A1 (p.G1113C) hypochondrogenesis mutation iPSC line, MCRIi019-A-7, using CRISPR/Cas9 gene editingJinia Lilianty0John F. Bateman1Shireen R. Lamandé2Murdoch Children’s Research Institute, Australia; Department of Paediatrics, University of Melbourne, AustraliaMurdoch Children’s Research Institute, Australia; Department of Paediatrics, University of Melbourne, Australia; Corresponding author.Murdoch Children’s Research Institute, Australia; Department of Paediatrics, University of Melbourne, AustraliaThe human inherited cartilage disease, Hypochondrogenesis, is caused by mutations in the collagen type II gene, COL2A1. To produce an in vitro disease model, we generated a heterozygous patient mutation, COL2A1 p.G1113C, in an established control human induced pluripotent stem cell (iPSC) line, MCRIi019-A, using CRISPR-Cas9 gene editing. The gene-edited mutant line, MCRIi019-A-7, exhibited normal iPSC characteristics, including normal cell morphology, expression of pluripotency markers, the ability to differentiate into three embryonic germ layers, and normal karyotype. Together with its parental isogenic control, this cell line will be useful for Hypochondrogenesis disease modelling and drug testing.http://www.sciencedirect.com/science/article/pii/S1873506121003627 |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Jinia Lilianty John F. Bateman Shireen R. Lamandé |
spellingShingle |
Jinia Lilianty John F. Bateman Shireen R. Lamandé Generation of a heterozygous COL2A1 (p.G1113C) hypochondrogenesis mutation iPSC line, MCRIi019-A-7, using CRISPR/Cas9 gene editing Stem Cell Research |
author_facet |
Jinia Lilianty John F. Bateman Shireen R. Lamandé |
author_sort |
Jinia Lilianty |
title |
Generation of a heterozygous COL2A1 (p.G1113C) hypochondrogenesis mutation iPSC line, MCRIi019-A-7, using CRISPR/Cas9 gene editing |
title_short |
Generation of a heterozygous COL2A1 (p.G1113C) hypochondrogenesis mutation iPSC line, MCRIi019-A-7, using CRISPR/Cas9 gene editing |
title_full |
Generation of a heterozygous COL2A1 (p.G1113C) hypochondrogenesis mutation iPSC line, MCRIi019-A-7, using CRISPR/Cas9 gene editing |
title_fullStr |
Generation of a heterozygous COL2A1 (p.G1113C) hypochondrogenesis mutation iPSC line, MCRIi019-A-7, using CRISPR/Cas9 gene editing |
title_full_unstemmed |
Generation of a heterozygous COL2A1 (p.G1113C) hypochondrogenesis mutation iPSC line, MCRIi019-A-7, using CRISPR/Cas9 gene editing |
title_sort |
generation of a heterozygous col2a1 (p.g1113c) hypochondrogenesis mutation ipsc line, mcrii019-a-7, using crispr/cas9 gene editing |
publisher |
Elsevier |
series |
Stem Cell Research |
issn |
1873-5061 |
publishDate |
2021-10-01 |
description |
The human inherited cartilage disease, Hypochondrogenesis, is caused by mutations in the collagen type II gene, COL2A1. To produce an in vitro disease model, we generated a heterozygous patient mutation, COL2A1 p.G1113C, in an established control human induced pluripotent stem cell (iPSC) line, MCRIi019-A, using CRISPR-Cas9 gene editing. The gene-edited mutant line, MCRIi019-A-7, exhibited normal iPSC characteristics, including normal cell morphology, expression of pluripotency markers, the ability to differentiate into three embryonic germ layers, and normal karyotype. Together with its parental isogenic control, this cell line will be useful for Hypochondrogenesis disease modelling and drug testing. |
url |
http://www.sciencedirect.com/science/article/pii/S1873506121003627 |
work_keys_str_mv |
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