Generation of an integration-free induced pluripotent stem cell line (PUMCHi001-A) from a patient with familial partial lipodystrophy type 2 (FPLD2) carrying a heterozygous p.R349W (c.1045C > T) 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. 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. Copyright © 2019 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Xiao C, Yu M, Liu J, Wu H, Deng M, Zhang Q, Xiao X |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2020 Jan;42:101651 |
| PubMed | 31794942 |
| DOI | 10.1016/j.scr.2019.101651 |