Aug 2026· Stem Cell Research· Vol 95, pp. 104088 - 104088· 0 citations· 8 references
Medicine
Abstract
Fabry disease is a rare genetic disease caused by loss-of-function in the GLA gene. This gene encodes the lysosomal enzyme α-galactosidase A (α-Gal A). A deficiency of α-Gal A results in the globotriaosylceramide buildup throughout the major organs, which is associated with increased mortality from cardiac disease in patients with Fabry disease. Both females and males are affected by this X-linked disease. We generated and characterized induced pluripotent stem cell (iPSC) lines from peripheral blood mononuclear cells (PBMCs) of two female patients carrying a heterozygous GLA mutation. The two Fabry disease patient-derived iPSC lines are thoroughly characterized and genetically accurate, valuable human cell resources for preclinical research.
Four induced pluripotent stem cell lines from peripheral blood mononuclear cells (PBMCs) obtained from members of a family carrying a heterozygous c.184C > T RPS19 mutation exhibiting variable clinical manifestations of Diamond-Blackfan anemia are generated.
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Induced pluripotent stem cell lines derived from two Marfan syndrome patients with mutations in the FBN1 gene exhibited typical iPSC morphology, normal karyotype, undifferentiated states, and trilineage differentiation capacity.
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Nephronophthisis, an autosomal recessive ciliopathy, is a rare genetic kidney disorder characterized by progressive tubulointerstitial fibrosis, corticomedullary cyst formation, and progression to end-stage renal disease. Here, we established a human induced pluripotent stem cell (hiPSC) line from peripheral blood mono...
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Two patient-derived induced pluripotent stem cell lines generated from clinically diagnosed HHT donors carrying heterozygous ACVRL1 mutations show expected iPSC morphology, robust expression of markers of the undifferentiated iPSC state, genomic stability by LP-WGS, and tri-lineage differentiation capacity.
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The peripheral blood mononuclear cells from a patient carrying frameshift mutation in the KMT2D gene were reprogrammed using the CytoTune-iPS2.0 Sendai Reprogramming Kit to allow proper in vitro disease modelling of Kabuki syndrome 1.
Hypokalemic periodic paralysis (HypoPP) is an autosomal dominant disorder caused by a p.Arg528His mutation in the CACNA1S gene, which encodes the α1-subunit of the skeletal muscle L-type calcium channel. The mutation causes leaky ion flow and impairs muscle excitation-contraction coupling. Patients exhibit episodic par...
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