Generation of a heterozygous COL2A1 (p.G1113C) hypochondrogenesis mutation iPSC line, MCRIi019-A-7, using CRISPR/Cas9 gene editing

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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Main Authors: Jinia Lilianty, John F. Bateman, Shireen R. Lamandé
Format: Article
Language:English
Published: Elsevier 2021-10-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506121003627
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spelling 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
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AT johnfbateman generationofaheterozygouscol2a1pg1113chypochondrogenesismutationipsclinemcrii019a7usingcrisprcas9geneediting
AT shireenrlamande generationofaheterozygouscol2a1pg1113chypochondrogenesismutationipsclinemcrii019a7usingcrisprcas9geneediting
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