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


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. Copyright © 2020 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Zhang H, Ma Y, Lv Y, Wan Y, Zhao Q, Gai Z, Liu Y
Journal Stem cell research
Publication Date 2020 May;45:101775
PubMed 32272370
DOI 10.1016/j.scr.2020.101775

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