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

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.

Palabras clave: Familial muscular dystrophy , FHL1 , induced pluripotent stem cell lines , mutation

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Excepto donde se diga explícitamente, este item se publica bajo la siguiente descripción: Creative Commons Attribution-NonCommercial-ShareAlike 2.5 Unported (CC BY-NC-SA 2.5)

Identificadores

URI: http://hdl.handle.net/11336/262990

DOI: http://dx.doi.org/10.1016/j.scr.2024.103307

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Articulos (INEU)
Articulos de INSTITUTO DE NEUROCIENCIAS

Articulos(IMEX)
Articulos de INST.DE MEDICINA EXPERIMENTAL

Citación

Zabalegui, Federico; Castañeda, Sheila Lucia; Amin, Guadalupe; Belli, Carolina Bárbara; Miriuka, Santiago Gabriel; et al.; 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; Elsevier Science; Stem Cell Research; 75; 3-2024; 1-4

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