Generation of iPSC line from MYH7 R403L mutation carrier with HCM and isogenic CRISPR/Cas9 corrected control
نویسندگان
چکیده
منابع مشابه
Generation of an isogenic, gene-corrected control cell line of the spinocerebellar ataxia type 2 patient-derived iPSC line H196.
Spinocerebellar ataxia type 2 (SCA2) is a neurodegenerative disease primarily affecting the cerebellum. Very little is known about the molecular mechanisms underlying the disease and, to date, no cure or treatment is available. We have successfully generated bona fide induced pluripotent stem cell (iPSC) lines of SCA2 patients in order to study a disease-specific phenotype. Here, we demonstrate...
متن کاملGeneration of a gene-corrected isogenic control cell line from an Alzheimer's disease patient iPSC line carrying a A79V mutation in PSEN1.
Alzheimer's disease (AD) is a progressive and irreversible neurodegenerative disease causing neural cell degeneration and brain atrophy and is considered to be the most common form of dementia. We previously generated an induced pluripotent stem cell (iPSC) line from an AD patient carrying an A79V mutation in PSEN1 as an in vitro disease model. Here we generated a gene-corrected version from th...
متن کاملGeneration of an isogenic, gene-corrected control cell line of the spinocerebellar ataxia type 2 patient-derived iPSC line H271.
Spinocerebellar ataxia type 2 (SCA2) is a neurodegenerative disease primarily affecting the cerebellum. Very little is known about the molecular mechanisms underlying the disease and, to date, no cure or treatment is available. We have successfully generated bona fide induced pluripotent stem cell (iPSC) lines of SCA2 patients in order to study a disease-specific phenotype. Here, we demonstrate...
متن کاملExpression of HCM causing mutations: lessons learnt from genotype-phenotype studies of the South African founder MYH7 A797T mutation.
Genotype-phenotype correlations provide another perspective in studies seeking to identify the factors that underlie the clinical variability that is a feature of several inherited diseases. This approach has been particularly revealing in investigations into the molecular causes and phenotypic heterogeneity associated with hypertrophic cardiomyopathy (HCM), a common inherited primary cardiac d...
متن کاملMyocardial fibrosis comparison by cmr between genetically positive HCM patients with MYBPC3 and MYH7 gene mutations
Background Advances in tissue characterization with late gadolinium enhancement (LGE) by cardiovascular magnetic resonance (CMR) have highlighted the importance of myocardial fibrosis (MF) in hypertrophic cardiomyopathy (HCM) by confirming that its presence and extent predicts adverse outcomes. Despite of the identification of several genes related to HCM, few studies have investigated the asso...
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ژورنال
عنوان ژورنال: Archives of Cardiovascular Diseases Supplements
سال: 2021
ISSN: 1878-6480
DOI: 10.1016/j.acvdsp.2021.04.143