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. Although multiple mutations have been reported in FPLD2 patients, the mechanism remains unclear due to the lack of cellular models for the disease. We previously have generated an iPSC line (PUMCHi001-A) from a FPLD2 patient with a heterozygous R349W mutation in the LMNA gene. Here we genetically corrected the R349W mutation in the LMNA gene using CRISPR/Cas9 technology to generate an isogenic control, which was an ideal control to exclude differences in genetic background between individuals while investigating the pathogenesis of the mutation in the disease.

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基因中的杂合突变引起，该基因编码lamin A / C。尽管在FPLD2患者中已报道了多种突变，但由于缺乏该疾病的细胞模型，其机制仍不清楚。我们先前已经从FPLD2患者中产生了iPSC系（PUMCHi001-A），该患者在LMNA基因中具有杂合的R349W突变。在这里，我们使用CRISPR / Cas9技术对LMNA基因中的R349W突变进行了基因校正，以产生同基因对照，这是一种理想的对照，可在研究疾病突变的发病机理时排除个体之间的遗传背景差异。