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 by non-integrating episomal vectors containing OCT4, SOX2, KLF4, BCL-XL and c-MYC. The iPSC line (SDQLCHi025-A) presented pluripotent cell morphology, high mRNA levels of pluripotency markers, differentiation potential in vitro, a normal karyotype, and carrying RYR1 gene mutations.

中文翻译：

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来自患有多微核病的女孩的无整合iPSC系SDQLCHi025-A，在RYR1基因中携带复合杂合子突变。

在这项工作中用于重编程的外周血单核细胞是由一个具有临床和遗传学诊断的多微核心疾病的女孩捐赠的，该疾病带有RYR1基因的复合杂合子突变。诱导多能干细胞（iPSC）是通过包含OCT4，SOX2，KLF4，BCL-XL和c - MYC的非整合型游离载体获得的。iPSC品系（SDQLCHi025-A）表现出多能细胞形态，多能性标记物的高mRNA水平，体外分化潜能，正常核型以及携带RYR1基因突变。