Generation of two human iPSC lines (HIMRi002-A and HIMRi003-A) derived from Caveolinopathy patients with rippling muscle disease

A Boeing; L Mavrommatis; N M Daya; H Zhuge; L Volke; A Kocabas; M Kneifel; M Athamneh; K Krause; N Südkamp; K Döring; C Theiss; A Roos; H Zaehres; A K Güttsches; M Vorgerd

doi:10.1016/j.scr.2023.103220

Generation of two human iPSC lines (HIMRi002-A and HIMRi003-A) derived from Caveolinopathy patients with rippling muscle disease

Stem Cell Res. 2023 Oct:72:103220. doi: 10.1016/j.scr.2023.103220. Epub 2023 Oct 4.

Authors

A Boeing¹, L Mavrommatis¹, N M Daya¹, H Zhuge¹, L Volke¹, A Kocabas¹, M Kneifel¹, M Athamneh¹, K Krause¹, N Südkamp¹, K Döring², C Theiss³, A Roos¹, H Zaehres⁴, A K Güttsches¹, M Vorgerd⁵

Affiliations

¹ Department of Neurology, Heimer Institute for Muscle Research, BG-University Hospital Bergmannsheil, Ruhr-University Bochum, 44789 Bochum, Germany.
² Department of Human Genetics, Ruhr-University Bochum, 44801 Bochum, Germany.
³ Department of Cytology, Ruhr-University Bochum, 44801 Bochum, Germany.
⁴ Department of Anatomy and Molecular Embryology, Institute of Anatomy, Ruhr-University Bochum, 44801 Bochum, Germany.
⁵ Department of Neurology, Heimer Institute for Muscle Research, BG-University Hospital Bergmannsheil, Ruhr-University Bochum, 44789 Bochum, Germany. Electronic address: matthias.vorgerd@bergmannsheil.de.

PMID: 37839261
DOI: 10.1016/j.scr.2023.103220

Abstract

Here we introduce the human induced pluripotent stem cell lines (hiPSCs), HIMRi002-A and HIMRi003-A, generated from cultured dermal fibroblasts of 61-year-old (HIMRi002-A) and 38-year-old (HIMRi003-A) female patients, carrying a known heterozygous pathogenic variant (p.A46T) in the Caveolin 3 (CAV3) gene, via lentiviral expression of OCT4, SOX2, KLF4 and c-MYC. HIMRi002-A and HIMRi003-A display typical embryonic stem cell-like morphology, carry the p.A46T CAV3 gene mutation, express several pluripotent stem cell markers, retain normal karyotype (46, XX) and can differentiate in all three germ layers. We postulate that the HIMRi002-A and HIMRi003-A iPSC lines can be used for the characterization of CAV3-associated pathomechanisms and for developing new therapeutic options.

MeSH terms

Cell Differentiation / genetics
Female
Fibroblasts / metabolism
Humans
Induced Pluripotent Stem Cells* / metabolism
Kruppel-Like Factor 4
Middle Aged
Muscular Diseases* / metabolism
Muscular Diseases* / pathology
Mutation
Pluripotent Stem Cells*

Substances

Kruppel-Like Factor 4

Supplementary concepts

Rippling muscle disease, 1