An integration-free iPSC line SDQLCHi025-A from a girl with multiminicore disease carrying compound heterozygote mutations in RYR1 gene
oleh: Haiyan Zhang, Yanyan Ma, Yuqiang Lv, Ya Wan, Quanli Zhao, Zhongtao Gai, Yi Liu
| Format: | Article |
|---|---|
| Diterbitkan: | Elsevier 2020-05-01 |
Deskripsi
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.