2022
Postmortem Human Dura Mater Cells Exhibit Phenotypic, Transcriptomic and Genetic Abnormalities that Impact their Use for Disease Modeling
Argouarch A, Schultz N, Yang A, Jang Y, Garcia K, Cosme C, Corrales C, Nana A, Karydas A, Spina S, Grinberg L, Miller B, Wyss-Coray T, Abyzov A, Goodarzi H, Seeley W, Kao A. Postmortem Human Dura Mater Cells Exhibit Phenotypic, Transcriptomic and Genetic Abnormalities that Impact their Use for Disease Modeling. Stem Cell Reviews And Reports 2022, 18: 3050-3065. PMID: 35809166, PMCID: PMC9622518, DOI: 10.1007/s12015-022-10416-x.Peer-Reviewed Original ResearchConceptsDivergent gene expression profilesDefective DNA damage repairDisease modelingDNA damage repairGene expression profilesSpecific cell typesCell linesDura mater cellsDermal fibroblastsSomatic mutation signaturesPatient-derived cellsNormal biologyDamage repairExpression profilesSlow growth rateDifferentiation protocolsCell typesFibroblast-like cellsMutation signaturesProtein markersHuman dermal fibroblastsExhibit phenotypicNeurodegenerative diseasesDura materFibroblasts
2017
One thousand somatic SNVs per skin fibroblast cell set baseline of mosaic mutational load with patterns that suggest proliferative origin
Abyzov A, Tomasini L, Zhou B, Vasmatzis N, Coppola G, Amenduni M, Pattni R, Wilson M, Gerstein M, Weissman S, Urban AE, Vaccarino FM. One thousand somatic SNVs per skin fibroblast cell set baseline of mosaic mutational load with patterns that suggest proliferative origin. Genome Research 2017, 27: 512-523. PMID: 28235832, PMCID: PMC5378170, DOI: 10.1101/gr.215517.116.Peer-Reviewed Original ResearchConceptsSomatic mosaicismFibroblast cellsSingle-cell whole-genome amplificationAllele frequenciesNumber of SNVsNormal cell proliferationCell proliferationWhole genome amplificationStem cell linesPluripotent stem cell lineHealthy human tissuesDe novo variantsCancer mutationsHigh-resolution analysisMutational loadPCR experimentsSkin fibroblast cellsMutational signaturesHiPSC linesDe novoGenomeNovo variantsFibroblast populationsCell linesSomatic SNVs
2012
Somatic copy number mosaicism in human skin revealed by induced pluripotent stem cells
Abyzov A, Mariani J, Palejev D, Zhang Y, Haney MS, Tomasini L, Ferrandino AF, Rosenberg Belmaker LA, Szekely A, Wilson M, Kocabas A, Calixto NE, Grigorenko EL, Huttner A, Chawarska K, Weissman S, Urban AE, Gerstein M, Vaccarino FM. Somatic copy number mosaicism in human skin revealed by induced pluripotent stem cells. Nature 2012, 492: 438-442. PMID: 23160490, PMCID: PMC3532053, DOI: 10.1038/nature11629.Peer-Reviewed Original Research