Friedreich's ataxia (FRDA) is a rare neurodegenerative disorder caused by over expansion of GAA repeats in the first intron of the FXN gene. Here, the authors generated two iPSC lines from FRDA patients with biallelic expansion of GAA repeats in the first intron of FXN gene. Both iPSC lines demonstrated characteristics of pluripotency, normal karyotypes (46, XY), the capacity to differentiate into all three germ layers, and the ability to sustain the GAA repeat expansion with decreased FXN mRNA expression.
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Generation and characterization of two human iPSC lines, IGIBi014-A and IGIBi015-A, from Friedreich's ataxia (FRDA) patients with pathogenic (GAA/TTC)n repeat expansion in first intron of the Frataxin (FXN) gene
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