Generation of a human iPSC line (FDCHi009-A) from a patient with CHARGE syndrome carrying a novel CHD7 mutation (c.2939 T > C)
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Developmental Biology,General Medicine
Reference5 articles.
1. Chromatin remodeling by the CHD7 protein is impaired by mutations that cause human developmental disorders;Bouazoune;PNAS,2012
2. Current Challenges of iPSC-Based Disease Modeling and Therapeutic Implications;Doss;Cells.,2019
3. Mutation update on the CHD7 gene involved in CHARGE syndrome;Janssen;Hum. Mutat.,2012
4. Generation of an induced pluripotent stem cell line from an Alström Syndrome patient with ALMS1 mutation (c.3902C > A, c.6436C > T) and a gene correction isogenic iPSC line;Ji;Stem Cell Res.,2020
5. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome;Vissers;Nat. Genet.,2004
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1. CHARGE syndrome, from occurrence to treatment;Human Gene;2023-05
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