Familial partial lipodystrophy type 2 (FPLD2) is a rare autosomal dominant metabolic disorder caused by heterozygous mutations in the LMNA gene, which encodes for the lamin A/C. A human induced pluripotent stem cell (iPSC) line was generated from peripheral blood mononuclear cells (PBMCs) of a 30 year-old male patient with FPLD2 who had a heterozygous p.R349W (c.1045C > T) mutation in the LMNA gene using non-integrating episomal vector technique. This iPSC line offers a useful resource to investigate pathogenic mechanisms in FPLD2, as well as a cell-based model for drug development to treat FPLD2.

中文翻译：

---

从携带LMNA基因杂合性p.R349W（c.1045C> T）突变的2型家族性部分脂肪营养不良（FPLD2）的患者中产生无整合的诱导性多能干细胞系（PUMCHi001-A）。

2型家族性部分脂肪营养不良（FPLD2）是一种罕见的常染色体显性遗传疾病，由LMNA基因的杂合突变引起，该基因编码lamin A / C。使用30岁的FPLD2男性患者外周血单核细胞（PBMC）生成人诱导的多能干细胞（iPSC）系，该患者在LMNA基因中具有p.R349W杂合突变（c.1045C>  T），使用非整合附加型载体技术。该iPSC品系为研究FPLD2中的致病机制提供了有用的资源，也为治疗FPLD2的药物开发提供了基于细胞的模型。