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

• DOI: 10.1016/j.scr.2023.103210
• Publication Date: 2023-09-21T01:02:01Z
• Authors: N.M. Daya; L. Mavrommatis; H. Zhuge; M. Athamneh; A. Roos; D. Gläser; K. Doering; H. Zaehres; M. Vorgerd; A.K. Güttsches
• Keywords: Male; Pluripotent Stem Cells; ddc:610; Kruppel-Like Factor 4; QH301-705.5; Induced Pluripotent Stem Cells; Mutation; Humans; Cell Differentiation; Biology (General); Middle Aged; Fibroblasts

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 FLNC gene mutation, expressed several pluripotent stem cell makers, retained normal karyotype (46, XY) and holds the potential to differentiate in all three germ layers. We postulate that HIMRi001-A can be used for the elucidation of FLNC-associated pathomechanisms and for developing new therapeutic options.