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Cellosaurus UKAi005-A (CVCL_A5MX)

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Cell line name UKAi005-A
Synonyms IEM 1
Accession CVCL_A5MX
Resource Identification Initiative To cite this cell line use: UKAi005-A (RRID:CVCL_A5MX)
Comments From: Universitatsklinikum Aachen; Aachen; Germany.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:10597; SCN9A; Simple; p.Ile859Thr (c.2576T>C) (p.Ile848Thr, c.2543T>C); ClinVar=VCV000006350; Zygosity=Heterozygous (PubMed=30720580).
Disease Erythromelalgia (NCIt: C34593)
Primary erythromelalgia (ORDO: Orphanet_90026)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 59Y
Category Induced pluripotent stem cell
Publications

PubMed=30720580; DOI=10.1097/j.pain.0000000000001511; PMCID=PMC6554007
Jannis E. Meents, Elisangela Bressan, Stephanie Sontag, Alec Foerster, Petra Hautvast, Corinna Rosseler, Martin Hampl, Herdit M. Schuler, Roman Goetzke, Thi Kim Chi Le, Inge Petter Kleggetveit ...Show all 23 authors... , Kim Le Cann, Clara Kerth, Anthony Michael Rush, Marc Rogers, Zacharias Kohl, Martin Schmelz, Wolfgang Wagner, Ellen Jorum, Barbara Namer, Beate Winner, Martin Zenke, Angelika Lampert; Show fewer authors
The role of Nav1.7 in human nociceptors: insights from human induced pluripotent stem cell-derived sensory neurons of erythromelalgia patients.
Pain 160:1327-1341(2019)

Cross-references
Cell line databases/resources hPSCreg; UKAi005-A
Encyclopedic resources Wikidata; Q107117226
Entry history
Entry creation20-May-2021
Last entry update19-Dec-2024
Version number6