An integration-free iPSC line SDQLCHi025-A from a girl with multiminicore disease carrying compound heterozygote mutations in RYR1 gene.
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DOI: 10.1016/j.scr.2020.101775
Abstract: Peripheral blood mononuclear cells for reprogramming in this work were donated by a girl with clinically and genetically diagnosed multiminicore disease harboring compound heterozygote mutations of RYR1 gene. Induced pluripotent stem cells (iPSCs) were obtained… read more here.
Keywords: ryr1 gene; multiminicore disease; heterozygote mutations; mutations ryr1 ... See more keywords