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
| Autor: | Federico Zabalegui, Sheila Lucia Castañeda, Guadalupe Amin, Carolina Belli, Santiago Gabriel Miriuka, Lucía Natalia Moro |
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| Jazyk: | angličtina |
| Rok vydání: | 2024 |
| Předmět: | |
| Zdroj: | Stem Cell Research, Vol 75, Iss , Pp 103307- (2024) |
| Druh dokumentu: | article |
| ISSN: | 1873-5061 69486336 |
| DOI: | 10.1016/j.scr.2024.103307 |
| Popis: | 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. |
| Databáze: | Directory of Open Access Journals |
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