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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

2023-12-28

Abstract excerpt

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 re...

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Literature Corpus work
13c968f8-1a2b-5e16-8cba-c95729dca39c
DOI
10.21203/rs.3.rs-3805954/v1
Open publication

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Derivation of two human induced pluripotent stem cell lines carrying a missense mutation in FHL1 (c.377G>A, p.C126Y) linked to familial muscular dystrophyDOI 10.21203/rs.3.rs-3805954/v1
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