Generation of a human iPSC line (HIMRi001-A) from a patient with filaminopathy
Summary
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. Copyright © 2023 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Daya NM, Mavrommatis L, Zhuge H, Athamneh M, Roos A, Gläser D, Doering K, Zaehres H, Vorgerd M, Güttsches AK |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2023 Oct;72:103210 |
| PubMed | 37748332 |
| DOI | 10.1016/j.scr.2023.103210 |