Induced pluripotent stem cell line (INSAi002-A) from a Fabry Disease patient hemizygote for the rare p.W287X mutation
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Developmental Biology,General Medicine
Reference4 articles.
1. Mutation analysis in patients with the typical form of Anderson-Fabry disease;Davies;Hum. Mol. Genet.,1993
2. Cell line and DNA biobank from patients affected by genetic diseases;Filocamo;Open J. Bioresour.,2014
3. Translational readthrough of GLA nonsense mutations suggests dominant-negative effects exerted by the interaction of wild-type and missense variants;Lombardi;RNA Biol.,2020
4. Screening and detection of gene mutations in Japanese patients with Fabry disease by non-radioactive single-stranded conformation polymorphism analysis;Takata;Brain Dev.,1997
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1. Modeling Lysosomal Storage Disorders in an Innovative Way: Establishment and Characterization of Stem Cell Lines from Human Exfoliated Deciduous Teeth of Mucopolysaccharidosis Type II Patients;International Journal of Molecular Sciences;2024-03-21
2. Generation of GLA-knockout human embryonic stem cell lines to model peripheral neuropathy in Fabry disease;Molecular Genetics and Metabolism Reports;2022-12
3. The Cardiovascular Phenotype in Fabry Disease: New Findings in the Research Field;International Journal of Molecular Sciences;2021-01-29
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