Stem cell research最新文献

Epilepsy is a group of chronic brain disorders characterized by recurrent, episodic, and transient dysfunction of the central nervous system caused by abnormal, excessive neuronal discharges. In this study, peripheral blood mononuclear cells (PBMCs) were isolated from a young patient bearing an FGF12 gene mutation and suffering from clinically and genetically diagnosed epilepsy. Induced pluripotent stem cells (iPSCs) were established using a non-integrative method involving plasmids carrying OCT4, SOX2, KLF4, BCL-XL, and C-MYC. The resulting iPSCs exhibited typical pluripotent cell morphology, a normal karyotype, and the potential to differentiate into all three germ layers.

Thrombocytopenia 2 (OMIM 610855) is a hereditary thrombocytopenia and blood cancer syndrome caused by germline mutations in the 5' untranslated region of ANKRD26. We generated an induced pluripotent stem cell (iPSC) line (CGOi001-A) from a donor with a germline ANKRD26 mutation and hereditary thrombocytopenia. This line is a valuable resource for studying the ANKRD26-mutant cellular phenotype.

Floating-Harbor syndrome (FHS) is a rare neurodevelopmental disorder caused by truncating variants in the last two exons of the gene encoding the chromatin remodeler SRCAP. We used CRISPR-Cas9 genome editing to introduce a monoallelic c.7330C > T (p.Arg2444*) truncating mutation into a published WTC11 iPSC line containing a tetracycline-inducible NGN2 transgene. We characterised two independent lines that maintained a normal karyotype, pluripotency and the ability to differentiate in vitro into all three embryonic germ layers. These lines can be rapidly differentiated into cortical neurons through the addition of doxycycline, making them a useful model for understanding the pathogenic mechanisms underlying FHS.

Bipolar disorder (BD) and major depressive disorder (MDD) are severe, heritable psychiatric illnesses. Here, we report the generation of two induced pluripotent stem cell (iPSC) lines from peripheral blood mononuclear cells of a female with MDD (HZSMHCI004-A) and her son with BD (HZSMHCI001-A). Reprogramming was achieved using non-integrating episomal vectors. Both iPSC lines exhibit normal karyotypes, express key pluripotency markers, and demonstrate the capacity to differentiate into derivatives of all three germ layers in vivo via teratoma formation assays. These cell lines represent a valuable resource for investigating the distinct and shared pathophysiology of MDD and BD on a controlled genetic background.

Down syndrome (DS), resulting from trisomy 21, is the most prevalent genetic cause of neurodevelopmental impairment and a significant risk factor for developing pathology of Alzheimer's disease (AD). In this study, we generated an induced pluripotent stem cell (iPSC) line (AHMUCNi004-A) from peripheral blood mononuclear cells (PBMCs) of a 14-year-old male with DS using non-integrative episomal vectors. The AHMUCNi004-A line exhibits typical iPSCs' morphology, expresses hallmark pluripotency markers, and maintains the constitutive trisomy 21 karyotype. Furthermore, the line demonstrates the capacity to differentiate into derivatives of all three embryonic germ layers.

Dilated cardiomyopathy (DCM) represents the most prevalent form of cardiomyopathy. Multiple genetic variants are linked to DCM severity. We have established a human induced pluripotent stem cell (iPSC) line derived from a DCM patient harboring the p.M17164T (c.51491T>C) and p.Y138C (c.413A>G) mutations in the Titin (TTN) gene, as well as the p.Q3_S5del (c.9_17del) deletion in the TAB2 gene. The established iPSCs exhibited a normal karyotype (46, XX) and expressed pluripotency markers, successfully differentiating into cardiomyocytes. This cell line serves as a valuable resource for investigating the pathogenic mechanisms underlying DCM associated with TTN and TAB2 variants.

Marfan Syndrome, a heritable connective tissue disorder caused by mutations within the fibrillin-1 (FBN1) gene, can have deleterious effects on heart and aorta, eyes, the skeletal system and bone. FBN1 mutations that result in increased aortic vulnerability to rupture are associated with high mortality rates. Here, we describe an induced pluripotent stem cell line (JHUi006-A) generated from patient-derived human dermal fibroblasts harboring a heterozygous c.5225-2A > C intronic splice acceptor site variant preceding Exon 43 of FBN1 that results in exon skipping. The clonal line has a normal karyotype, expresses appropriate stemness markers, and maintains trilineage differentiation potential.