Generation of two gene corrected human isogenic iPSC lines (NCATS-CL6104 and NCATS-CL6105) from a patient line (NCATS-CL6103) carrying a homozygous p.R401X mutation in the NGLY1 gene using CRISPR/Cas9.
Stem Cell Res
; 56: 102554, 2021 10.
Article
em En
| MEDLINE
| ID: mdl-34619643
ABSTRACT
NGLY1 deficiency is a rare recessive genetic disease caused by mutations in the NGLY1 gene which codes for N-glycanase 1 (NGLY1). Here, we report the generation of two gene corrected iPSC lines using a patient-derived iPSC line (NCATS-CL6103) that carried a homozygous p.R401X mutation in the NGLY1 gene. These lines contain either one (NCATS-CL6104) or two (NCATS-CL6105) CRISPR/Cas9 corrected alleles of NGLY1. This pair of NGLY1 mutation corrected iPSC lines can be used as a control for the NCATS-CL6103 which serves as a cell-based NGLY1 disease model for the study of the disease pathophysiology and evaluation of therapeutics under development.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Defeitos Congênitos da Glicosilação
/
Peptídeo-N4-(N-acetil-beta-glucosaminil) Asparagina Amidase
/
Células-Tronco Pluripotentes Induzidas
Limite:
Humans
País/Região como assunto:
America do norte
Idioma:
En
Revista:
Stem Cell Res
Ano de publicação:
2021
Tipo de documento:
Article
País de afiliação:
Estados Unidos