An integration-free iPSC line SDQLCHi025-A from a girl with multiminicore disease carrying compound heterozygote mutations in RYR1 gene

来自一名患有多微核病且携带 RYR1 基因复合杂合突变的女孩的无整合 iPSC 系 SDQLCHi025-A

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作者:Haiyan Zhang, Yanyan Ma, Yuqiang Lv, Ya Wan, Quanli Zhao, Zhongtao Gai, Yi Liu

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 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.

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