Generation of an isogenic gene-corrected iPSC line (PUMCHi001-A-1) from a familial partial lipodystrophy type 2 (FPLD2) patient with a heterozygous R349W mutation in the LMNA gene
Summary
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. Copyright © 2020. Published by Elsevier B.V.
| Authors | Xiao C, Yu M, Liu J, Wu H, Deng M, Zhang Q, Xiao X |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2020 Apr;44:101753 |
| PubMed | 32213461 |
| DOI | 10.1016/j.scr.2020.101753 |