Generation of a human induced pluripotent stem cell panel from a family with a heterozygous RPS19 mutation including healthy wild-type, silent carrier and Diamond-Blackfan anemia individuals.
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.
Abstract
Diamond-Blackfan anemia (DBA) is a rare inherited bone marrow failure syndrome characterized by defective erythropoiesis and increased risk of congenital malformations and cancer. Progress in understanding DBA pathophysiology has been hindered by the lack of physiologically relevant disease models, limited public funding, and low commercial interest. Here, we generated four induced pluripotent stem cell (iPSC) lines from peripheral blood mononuclear cells (PBMCs) obtained from members of a family carrying a heterozygous c.184C > T RPS19 mutation (p.Arg62Trp) exhibiting variable clinical manifestations of DBA. This well-characterized iPSC resource facilitates disease modelling and therapeutic development and is available to both academic and commercial researchers.
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 p...
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Infantile liver failure syndrome 2 (ILFS2, OMIM 616483) is a rare autosomal recessive disorder caused by neuroblastoma amplified sequence (NBAS) gene mutation, resulting in recurrent episodes of acute liver failure (ALF). The first onset of ALF is more common in infancy or early childhood. Recently, we identified a com...
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...
Jeeyoung Yoon, Y. Shin, Han-Bi Lee et al.· Stem Cell Research· 0 citations
Tropomyosin 1 (TPM1) encodes tropomyosin alpha-1 chain, a key cardiac sarcomere component, while TPM1 mutations cause hypertrophic cardiomyopathy (HCM), a major cause of sudden cardiac death in the young. We generated the human iPSC line ZZUNEUi040-A from peripheral blood mononuclear cells of a 10-year-old male with no...
SPG46 is a rare autosomal recessive form of hereditary spastic paraplegia (HSP) caused by biallelic pathogenic variants in GBA2, encoding the non-lysosomal glucosylceramidase. We generated an induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells of a 40-year-old Korean patient with adult-ons...
Tae-Yun Kim, Nayeon Lee, Na-Ye-On Jung et al.· Stem Cell Research· 0 citations
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