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- W4386880229 abstract "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." @default.
- W4386880229 created "2023-09-21" @default.
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- W4386880229 date "2023-10-01" @default.
- W4386880229 modified "2023-10-16" @default.
- W4386880229 title "Generation of a human iPSC line (HIMRi001-A) from a patient with filaminopathy" @default.
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- W4386880229 doi "https://doi.org/10.1016/j.scr.2023.103210" @default.
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