An integration-free iPSC line (MUSIi008-A) derived from a patient with severe hemolytic anemia carrying compound heterozygote mutations in KLF1 gene for disease modeling
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چکیده
منابع مشابه
Autoimmune Hemolytic Anemia in a Patient with Probable Ataxia Telangiectasia: A Case Report
Background: Ataxia telangiectasia (AT) is one of the combined immunodeficiency syndromes with immunologic, neurologic, endocrinologic, hepatic and cutaneous abnormalities. Regarding the fact that autoimmune disorders; such as autoimmune hemolytic anemia (AIHA), are not generally expected in the course of AT, we present a patient with an unusual presentation of these two conditions. Case present...
متن کاملA Fetal Hemolytic Anemia in a Child with Cytomegalovirus Infection
Background Autoimmune hemolytic anemia is a hematologic disorder that is rarely observed in infants and young children. Most of the cases are associated with viral or bacterial infections. In some cases, AIHA can be characterized by a chronic course and an unsatisfactory control of hemolysis, thus requiring prolonged immunosuppressive therapy. Case report Especially in children younger...
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 کاملA patient with Ehlers-Danlos syndrome type VI is a compound heterozygote for mutations in the lysyl hydroxylase gene.
In the present study, we have isolated and sequenced the complementary DNAs of two mutant alleles for lysyl hydroxylase (LH) in fibroblasts from one patient (AT750) with Ehlers-Danlos syndrome type VI (EDS VI). We have identified a putative mutation in each allele which may be responsible for the patient's decreased LH (normalized to prolyl hydroxylase) activity (24% of normal). Intermediate le...
متن کاملGeneration of a human iPSC line from a patient with a mitochondrial encephalopathy due to mutations in the GFM1 gene.
Human iPSC line GFM1SV.25 was generated from fibroblasts of a child with a severe mitochondrial encephalopathy associated with mutations in the GFM1 gene, encoding the mitochondrial translation elongation factor G1. Reprogramming factors OCT3/4, SOX2, CMYC and KLF4 were delivered using a non integrative methodology that involves the use of Sendai virus.
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ژورنال
عنوان ژورنال: Stem Cell Research
سال: 2019
ISSN: 1873-5061
DOI: 10.1016/j.scr.2018.09.021