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Article

Generation of two hiPSCs lines of two patients carrying truncating mutations in the dimerization domain of filamin C.

Stem cell research - 1 Apr 2024

Daya N M, Döring K, Zhuge H, Volke L, Stab V, Dietz J, Athamneh M, Roos A, Zaehres H, Güttsches A K, Mavrommatis L, Vorgerd M

Abstract excerpt

Here we introduce the human induced pluripotent stem cell lines (hiPSCs), HIMRi004-A and HIMRi005-A from dermal fibroblasts of a 48-year-old female (HIMRi004-A) carrying missense mutation that translate to the first described filamin C isoform p.W2710X and from a 56-year-old female (HIMRi005-A) carrying a recently described mutation in the same domain p.Y2704X. Both lines are generated via lentiviral expression...

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PMID: 38309149
DOI: 10.1016/j.scr.2024.103320

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Generation of two hiPSCs lines of two patients carrying truncating mutations in the dimerization domain of filamin C.PMID 38309149Read ↗

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