Derivation of two human induced pluripotent stem cell lines carrying a missense mutation in FHL1 (c.377G > A, p.C126Y) linked to familial muscular dystrophy
Summary
FHL1 gene locates in the Xq26 region and encodes for four and half LIM domain protein 1. It plays a crucial role in muscle cells and mutations in FHL1 are related to muscular dystrophy (MD). Peripheral blood mononuclear cells (PBMCs) were obtained from 2 family patients with MD that carry a pathogenic missense mutation in FHL1 (c.377G > A, p.C126Y). Induced pluripotent stem cells (iPSCs) were generated by PBMCs reprogramming using the lentiviral-hSTEMCCA-loxP vector, obtaining FHL1-T and FHL1-V iPSCs lines from patients. FHL1 genotype was maintained, and stemness and pluripotency were confirmed in both iPSCs lines. Copyright © 2024 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Zabalegui F, Castañeda SL, Amin G, Belli C, Miriuka SG, Moro LN |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2024 Mar;75:103307 |
| PubMed | 38244535 |
| DOI | 10.1016/j.scr.2024.103307 |