Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Stem cell research - 1 Oct 2023

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

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cell Differentiation
Share to Fibroblasts

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Induced Pluripotent Stem Cells

Share to Kruppel-Like Factor 4

Share to Muscular Diseases

Share to Mutation

Share to Pluripotent Stem Cells

Source

Identifiers

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

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Generation of two human iPSC lines (HIMRi002-A and HIMRi003-A) derived from Caveolinopathy patients with rippling muscle disease.PMID 37839261Read ↗

Generation of two hiPSCs lines of two patients carrying truncating mutations in the dimerization domain of filamin C.Semantic proximity Read ↗

Generation of a human induced pluripotent stem cell (iPSC) line (JUCTCi011-A) from skin fibroblasts of a healthy Jordanian male subjectSemantic proximity Read ↗

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

Generation of human induced pluripotent stem cells (EURACi001-A, EURACi002-A, EURACi003-A) from peripheral blood mononuclear cells of three patients carrying mutations in the CAV3 gene.Semantic proximity Read ↗

Establishment of a human induced pluripotent stem cell (iPSC) line (JUCTCi010-A) from a healthy Jordanian female skin dermal fibroblastsSemantic proximity Read ↗

Truncation of Caveolin-3 causes autosomal-recessive Rippling Muscle Disease.Semantic proximity Read ↗

Human-induced pluripotent stem cell line (FDHSi001-A) derived from a patient with a CGG repeat expansion in the 5'UTR of GIPC1.Semantic proximity Read ↗

Generation of a human iPSC line (MPIi008-A) from a patient with Denys-Drash syndrome.Semantic proximity Read ↗

Generation of a human iPSC line (UUIGPi015-A) from a patient with Dravet syndrome and a 2.9 Mb deletion spanning SCN1A on chromosome 2.Semantic proximity Read ↗

Generation of a human induced pluripotent stem cell line (UQACi001-A) from a severe epidermolysis bullosa simplex patient with the heterozygous mutation p.R125S in the KRT14 gene.Semantic proximity Read ↗

An induced pluripotent stem cell line (CIMRi001-A) from a Vici syndrome donor with a homozygous recessive c.1007A>G (p.Q336R) mutation in the EPG5 gene.Semantic proximity Read ↗

Autosomal recessive rippling muscle disease with homozygous CAV3 mutations.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.