Article
Generation and characterization of a human iPSC line SANi006-A from a Gray Platelet Syndrome patient.
Stem cell research - 1 Aug 2021
Aarts Cathelijn E M, Varga Eszter, Webbers Steven, Geissler Judy, von Lindern Marieke, Kuijpers Taco W, van den Akker Emile
Abstract excerpt
Induced pluripotent stem cells (iPSCs) were generated from erythroblasts (EBLs) obtained from a patient diagnosed with Gray Platelet Syndrome (GPS), caused by compound heterozygous NBEAL2 mutations (c.6568delT and c.7937T>C). GPS is an autosomal recessive bleeding disorder characterized by a lack of α-granules in platelets and progressive myelofibrosis. EBLs were reprogrammed with CytoTune-iPS 2.0 Sendai...
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