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Article

Generation of a human iPSC line (HIMRi001-A) from a patient with filaminopathy.

Stem cell research - 1 Oct 2023

Daya N M, Mavrommatis L, Zhuge H, Athamneh M, Roos A, Gläser D, Doering K, Zaehres H, Vorgerd M, Güttsches A K

Abstract excerpt

Here we introduce the human induced pluripotent stem cell (hiPSC) line HIMRi001-A generated from cultured dermal fibroblasts of a 60-year-old male patient with a myofibrillar myopathy, carrying a heterozygous c.4984C > T [p.Q1662X] mutation in the filamin C (FLNC)-gene, via lentiviral expression of OCT4, SOX2, KLF4 and c-MYC. HIMRi001-A displays typical embryonic stem cell-like morphology, carries the c.4984C > T...

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Identifiers

PMID: 37748332
DOI: 10.1016/j.scr.2023.103210

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