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Induced pluripotent stem cells from subjects with Lesch-Nyhan disease

19 Apr 2021

Abstract excerpt

Lesch-Nyhan disease (LND) is an inherited disorder caused by pathogenic variants in the HPRT1 gene, which encodes the purine recycling enzyme hypoxanthine-guanine phosphoribosyltransferase (HGprt). We generated 6 induced pluripotent stem cell (iPSC) lines from 3 individuals with LND, along with 6 control lines from 3 normal individuals. All 12 lines had the characteristics of pluripotent stem cells, as assessed...

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PMID: 33875724
DOI: 10.1038/s41598-021-87955-9

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