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Cellosaurus UKAi005-A (CVCL_A5MX)

[Text version]
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
Meents J.E., Bressan E., Sontag S., Foerster A., Hautvast P., Rosseler C., Hampl M., Schuler H.M., Goetzke R., Le T.K.C., Kleggetveit I.P., Le Cann K., Kerth C., Rush A.M., Rogers M., Kohl Z., Schmelz M., Wagner W., Jorum E., Namer B., Winner B., Zenke M., Lampert A.
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