Why the study?
Mutations in FHL1 play a crucial role in muscle cells and are linked to muscular dystrophy, warranting the derivation of patient-specific disease models.
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The successful generation of patient-derived iPSC lines carrying the FHL1 mutation provides a valuable in vitro model for studying familial muscular dystrophy.
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.
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Zabalegui et al. (2024) studied this question.
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