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 pathogen...
Main Authors: | Federico Zabalegui, Sheila Lucia Castañeda, Guadalupe Amin, Carolina Belli, Santiago Gabriel Miriuka, Lucía Natalia Moro |
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Format: | Article |
Language: | English |
Published: |
Elsevier
2024-03-01
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Series: | Stem Cell Research |
Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506124000059 |
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