Generation and characterization of human iPSC line MML-6838-Cl2 from mobilized peripheral blood derived megakaryoblasts.
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DOI: 10.1016/j.scr.2016.12.004
Abstract: Mobilized peripheral blood (MPB) CD34+ cells were cultured to CD41+/CD34+ megakaryoblasts. Cells were sorted to obtain a pure megakaryoblast population that was reprogramed by a hOKSM self-silencing polycistronic vector using lentiviral delivery. The generated induced… read more here.
Keywords: mml 6838; 6838 cl2; ipsc line; ipsc ... See more keywords
Generation of an induced pluripotent stem cell (iPSC) line from a patient with autosomal dominant retinitis pigmentosa due to a mutation in the NR2E3 gene.
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DOI: 10.1016/j.scr.2017.08.003
Abstract: A human iPSC line was generated from fibroblasts of a patient affected with autosomal dominant Retinitis Pigmentosa (RP) carrying the mutation p.Gly56Arg in the NR2E3 gene. The transgene-free iPSCs were generated with the human OSKM… read more here.
Keywords: retinitis pigmentosa; nr2e3 gene; stem cell; autosomal dominant ... See more keywords
Generation and characterization of the human iPSC line IDISi001-A isolated from blood cells of a CADASIL patient carrying a NOTCH3 mutation.
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DOI: 10.1016/j.scr.2018.01.023
Abstract: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common form of hereditary stroke disorder. It is caused by mutations in NOTCH3 that lead to progressive degeneration of the smooth muscle… read more here.
Keywords: patient carrying; carrying notch3; notch3 mutation; blood ... See more keywords
Generation of an iPSC line of a patient with Angelman syndrome due to an imprinting defect.
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DOI: 10.1016/j.scr.2018.09.015
Abstract: Angelman syndrome (AS) is a neurodevelopmental disorder with leading symptoms of happy demeanor, intellectual disability, ataxia and seizures. AS can be caused by genetic and epigenetic aberrations, resulting in the absence of functional UBE3A protein… read more here.
Keywords: generation ipsc; due imprinting; imprinting defect; angelman syndrome ... See more keywords
Establishment of TUSMi007-A, an induced pluripotent stem cell (iPSC) line from an 83-year old Chinese Han patient with Alzheimer's disease (AD).
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DOI: 10.1016/j.scr.2018.11.008
Abstract: An 83-year old Alzheimer's disease (AD) male patient donated his Peripheral blood mononuclear cells (PBMC). The non-integrating episomal vector system used to reprogram PBMCs with the human OKSM transcription factors. The pluripotency of transgene-free iPSCs… read more here.
Keywords: year old; alzheimer disease; ipsc line; stem cell ... See more keywords
The use of simultaneous reprogramming and gene correction to generate an osteogenesis imperfecta patient COL1A1 c. 3936 G>T iPSC line and an isogenic control iPSC line.
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DOI: 10.1016/j.scr.2019.101453
Abstract: To develop a disease model for the human 'brittle bone' disease, osteogenesis imperfecta, we used a simultaneous reprogramming and CRISPR-Cas9 genome editing method to produce an iPSC line with the heterozygous patient mutation (COL1A1 c.… read more here.
Keywords: line; control; osteogenesis imperfecta; simultaneous reprogramming ... See more keywords
Generation of a human iPSC line, INMi003-A, with a missense mutation in CRX associated with autosomal dominant cone-rod dystrophy.
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DOI: 10.1016/j.scr.2019.101478
Abstract: We generated an induced pluripotent stem cell (iPSC) line using dermal fibroblasts from a 53 year-old patient with autosomal dominant cone-rod dystrophy (CRD) caused by a missense mutation, c.121C > T, in the CRX gene. Patient fibroblasts were… read more here.
Keywords: line; crx; autosomal dominant; dominant cone ... See more keywords
An integration-free iPSC line (SDQLCHi012-A) derived from a patient with inflammatory bowel disease- 28 carrying compound heterozygote mutations in IL10RA gene.
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DOI: 10.1016/j.scr.2019.101577
Abstract: Induced pluripotent stem cell (iPSC) line (SDQLCHi012-A) was generated from peripheral blood mononuclear cells of an 11-month-old male who was diagnosed as inflammatory bowel disease-28 caused by compound heterozygote for IL10RA mutations (c.188 + 1G > A and c.301C > T).… read more here.
Keywords: bowel disease; line; inflammatory bowel; line sdqlchi012 ... See more keywords
Establishment of human iPSC line from patient of Indian ethnicity carrying homozygous CD8/9 (+G) beta thalassemia mutation.
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DOI: 10.1016/j.scr.2020.101772
Abstract: This study shows generation of iPSCs from peripheral blood mononuclear cells (PBMNCs) of a male patient having homozygous CD 8/9 (+G) beta thalassemia (major) mutation. Cells were nucleofected with episomal vectors containing Oct4, Sox2, L-Myc,… read more here.
Keywords: line; beta thalassemia; ipsc line; mutation ... See more keywords
Generation of iPSC line from MYH7 R403L mutation carrier with severe hypertrophic cardiomyopathy and isogenic CRISPR/Cas9 corrected control.
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DOI: 10.1016/j.scr.2021.102245
Abstract: MYH7 is a major gene responsible for hypertrophic cardiomyopathy (HCM). From patient's skin fibroblasts, we derived an iPSC line (CDGEN1.16) harboring the heterozygous MYH7 R403L mutation, a hot-spot codon in HCM. We subsequently corrected the… read more here.
Keywords: r403l mutation; line; crispr cas9; hypertrophic cardiomyopathy ... See more keywords
Derivation of iPSC line (RCMGi002-A) from dermal fibroblasts of a cystic fibrosis female patient with homozygous F508del mutation.
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DOI: 10.1016/j.scr.2021.102251
Abstract: Cystic fibrosis is one of the most common inherited diseases caused by mutations in CFTR gene, of which F508del is the most frequent. Currently, the possibility of cell therapy including genome editing is widely discussed.… read more here.
Keywords: cystic fibrosis; fibrosis; derivation ipsc; line rcmgi002 ... See more keywords