Generation of a heterozygous COL2A1 (p.R989C) spondyloepiphyseal dysplasia congenita mutation iPSC line, MCRIi001-B, using CRISPR/Cas9 gene editing-Reference-Cited by-同舟云学术

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Generation of a heterozygous COL2A1 (p.R989C) spondyloepiphyseal dysplasia congenita mutation iPSC line, MCRIi001-B, using CRISPR/Cas9 gene editing

Published:2020-05 Issue: Volume:45 Page:101843
ISSN:1873-5061
Container-title:Stem Cell Research
language:en
Short-container-title:Stem Cell Research

Author:

Lilianty Jinia,Nur Patria Yudha,Stanley Edouard G.,Elefanty Andrew G.,Bateman John F.,Lamandé Shireen R.

Funder

Australian National Health & Medical Research Council

Publisher

Elsevier BV

Subject

Cell Biology,Developmental Biology,General Medicine

Reference4 articles.

1. Characterization of an arginine 789 to cysteine substitution in alpha 1 (II) collagen chains of a patient with spondyloepiphyseal dysplasia;Chan;J. Biol. Chem.,1993

2. Cells expressing partially unfolded R789C/p.R989C type II procollagen mutant associated with spondyloepiphyseal dysplasia undergo apoptosis;Hintze;Human Mutat.,2008

3. Assessment of established techniques to determine developmental and malignant potential of human pluripotent stem cells;International Stem Cell Initiative;Nat. Commun.,2018

4. Generation of a SOX9-tdTomato reporter human iPSC line, MCRIi001-A-2, using CRISPR/Cas9 editing;Nur Patria;Stem Cell Res.,2020

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. ER procollagen storage defect without coupled unfolded protein response drives precocious arthritis;Life Science Alliance;2024-07-09

2. Chondrodysplasia-inducingCOL2A1p.Gly1170Ser causes an ER storage defect without associated unfolded protein response in a human cartilage model;2023-10-20

3. Developmental principles informing human pluripotent stem cell differentiation to cartilage and bone;Seminars in Cell & Developmental Biology;2021-12

4. A novel COL2A1 mutation causing spondyloepiphyseal dysplasia congenita in a Chinese family;Journal of Clinical Laboratory Analysis;2021-02-16

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