CRISPR/Cas9 editing to generate a heterozygous COL2A1 p.G1170S human chondrodysplasia iPSC line, MCRIi019-A-2, in a control iPSC line, MCRIi019-A.
Stem Cell Res
; 48: 101962, 2020 10.
Article
en En
| MEDLINE
| ID: mdl-33002832
ABSTRACT
To develop an in vitro disease model of a human chondrodysplasia, we used CRISPR/Cas9 gene editing to generate a heterozygous COL2A1 exon 50 c.3508 GGT > TCA (p.G1170S) mutation in a control human iPSC line. Both the control and COL2A1 mutant lines displayed typical iPSC characteristics, including normal cell morphology, expression of pluripotency markers, the ability to differentiate into endoderm, ectoderm and mesoderm lineages and normal karyotype. These chondrodysplasia mutant and isogenic control cell lines can be used to explore disease mechanisms underlying type II collagenopathies and aid in the discovery of new therapeutic strategies.
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Osteocondrodisplasias
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Colágeno Tipo II
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Células Madre Pluripotentes Inducidas
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Sistemas CRISPR-Cas
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Edición Génica
Tipo de estudio:
Prognostic_studies
Límite:
Humans
Idioma:
En
Revista:
Stem Cell Res
Año:
2020
Tipo del documento:
Article
País de afiliación:
Australia