从携带 LMNA 杂合突变（p.R541C）的扩张型心肌病患者中生成 iPSC 细胞系（USFi003-A）。
Generation of an iPSC cell line (USFi003-A) from a patient with dilated cardiomyopathy carrying a heterozygous mutation in LMNA (p.R541C).
机构信息
Molecular Pharmacology and Physiology, Morsani College of Medicine - University of South Florida, Tampa, FL, USA.
Heart Institute, Morsani College of Medicine - University of South Florida, Tampa, FL, USA.
出版信息
Stem Cell Res. 2021 Jul;54:102396. doi: 10.1016/j.scr.2021.102396. Epub 2021 May 13.
Mutations in the gene that encodes the nuclear envelope proteins lamin A/C (LMNA) are considered to be a prominent cause of Dilated cardiomyopathy (DCM), a leading cause of heart failure and a prevalent indication for heart transplant. Here we described the generation of induced pluripotent stem cells (iPSCs) from a 53-year-old female with DCM plus progressive conduction disease who carry a heterozygous mutation in LMNA (c.1621C > T, p.R541C). PBMCs isolated from the patient were reprogrammed with Yamanaka factors KOS, KLF4, and c-MYC by the non-integrating sendai virus vector system. The obtained iPSC lines demonstrated normal karyotype and pluripotent identity.
编码核膜蛋白 lamin A/C（LMNA）的基因突变被认为是扩张型心肌病（DCM）的主要原因，DCM 是心力衰竭的主要原因，也是心脏移植的常见指征。在这里，我们描述了从一位 53 岁患有 DCM 合并进行性传导疾病的女性患者中生成诱导多能干细胞（iPSC）的过程，该患者携带 LMNA 中的杂合突变（c.1621C>T，p.R541C）。通过非整合性仙台病毒载体系统，用 Yamanaka 因子 KOS、KLF4 和 c-MYC 对患者的 PBMC 进行重编程。获得的 iPSC 系表现出正常的核型和多能性。
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