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Generation of an induced pluripotent stem cell line (SYSUi005-A) from a patient with hypertrophic cardiomyopathy

期刊: STEM CELL RESEARCH, 2022; 58 ()

Hypertrophic cardiomyopathy (HCM) is characterized by impaired energy metabolism irrespective of the degree of hypertrophy. Here, we reprogrammed peri......

JIF:1.717

Generation of patient-derived IPSC lines from a girl with Combined Oxidative Phosphorylation Deficiency 23 (COXPD23) caused by compound heterozygous GTPBP3 variants

期刊: STEM CELL RESEARCH, 2022; 61 ()

Combined Oxidative Phosphorylation Deficiency 23 (COXPD23) caused by mutations in GTPBP3 gene is a rare mitochondrial disease. The patient-derived PBM......

JIF:1.717

Generation of a human induced pluripotent stem cell (iPSC) line from skin fibroblasts of a patient carrying an E363Q mutation in PSEN1 gene

期刊: STEM CELL RESEARCH, 2022; 61 ()

Alzheimer's disease (AD) is a common neurodegenerative disease characterized by cognitive decline even leading to incapacity, which prevalence estimat......

JIF:1.717

Induced pluripotent stem cell line BIOi003-A from a patient with ABCA4-associated retinal dystrophy carrying compound heterozygous c. (1222C > T;2919-884G > T) variants in ABCA4

期刊: STEM CELL RESEARCH, 2022; 64 ()

ABCA4-associated retinal dystrophy is the most frequent inherited retinal dystrophy caused by biallelic variants in ABCA4 gene. We induced a new pluri......

JIF:1.717

Establishment and characterization of an induced pluripotent stem cell line CPGHi004-A from peripheral blood mononuclear cells of a healthy adult

期刊: STEM CELL RESEARCH, 2022; 59 ()

Induced pluripotent stem cells (iPSCs) are regarded as ideal cell sources of neural stem cells for the treatment of spinal cord injury (SCI). To minim......

JIF:1.717

Establishment of iPS cell line (KLRMMEi002-A) by reprogramming peripheral blood mononuclear cells from a patient with USH2A-associated Usher syndrome

期刊: STEM CELL RESEARCH, 2022; 60 ()

USH type 2 (USH2) is an autosomal recessive disorder that is characterized by inherited retinopathies and sensorineural hearing loss. USH type 2 (USH2......

JIF:1.717

Establishment of human embryonic stem cell (SKLRMe001-A)carrying Azoospermic factor c (AZFc) deletions

期刊: STEM CELL RESEARCH, 2022; 59 ()

The absence of azoospermia factor c (AZFc) is a common molecular cause of sperm failure. In men with non-obstructive azoospermia or severe oligospermi......

JIF:1.717

Generation of ultra-treatment-resistant schizophrenia patient-derived induced pluripotent stem cell line UJSi002-A

期刊: STEM CELL RESEARCH, 2022; 61 ()

Schizophrenia is a chronic, serious and disabling mental disorder. Most patients can effectively control their condition through drug treatment, but t......

JIF:1.717

Generation of an integration-free induced pluripotent stem cell line (LZUSHI001-A) from an epileptic patient with DGKG mutation

期刊: STEM CELL RESEARCH, 2022; 61 ()

Epilepsy is a common chronic neurological disorder related to genetic factors. Base on the non-integrating episomal vector technique, a human induced ......

JIF:1.717

Generation of a human extended pluripotent stem cell line (SKLRMe002-A) carrying a doxycycline-inducible Cas9 expression cassette

期刊: STEM CELL RESEARCH, 2022; 62 ()

Human extended pluripotent stem cell (hEPS) is a novel type of pluripotent stem cell, which possesses bi-potency towards both embryonic and extraembry......

JIF:1.717

Generation of human induced pluripotent stem cell line from peripheral blood mononuclear cells from an activated phosphoinositide 3-kinase delta syndrome patient

期刊: STEM CELL RESEARCH, 2022; 62 ()

Activated phosphoinositide 3-kinase delta syndrome (APDS) is a rare autosomal dominant primary immunodeficiency disease (PID) which was caused by the ......

JIF:1.717

Human induced pluripotent stem cell line ZZUNEUi027-A generated from a long QT syndrome patient with a heterozygous KCNH2 (c. 128 A > G) mutant

期刊: STEM CELL RESEARCH, 2022; 63 ()

Long QT syndrome is one of the most common hereditary arrhythmias. Mutations in KCNH2 can cause long QT syndrome type 2 (LQT2). In this study, we gene......

JIF:1.717

Generation and characterization of a human induced pluripotent stem cell line (XWHNi001-A) derived from an Alzheimer's disease patient with mutation in the APP gene

期刊: STEM CELL RESEARCH, 2022; 60 ()

Mutations in the APP gene are popularly known as the second cause trigger the familial Alzheimer's disease (AD). We generated a human induced pluripot......

JIF:1.717

Generation of a human induced pluripotent stem cell line PUMCHi019-A from a dominant optic atrophy patient with an OPA1 mutation

期刊: STEM CELL RESEARCH, 2022; 60 ()

Dominant optic atrophy (DOA) is one of the most common type of hereditary optic atrophy. Here, we describe the generation and characterization of a hu......

JIF:1.717

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