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Cellosaurus UKWNLi003-A (CVCL_VR98)

[Text version]
Cell line name UKWNLi003-A
Synonyms SCN10A-A-T365N-iPSC
Accession CVCL_VR98
Resource Identification Initiative To cite this cell line use: UKWNLi003-A (RRID:CVCL_VR98)
Comments From: Department of Neurology, University of Wurzburg; Wurzburg; Germany.
Population: Caucasian.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 10582; SCN10A; Simple; p.Thr365Asn (c.1094C>A); dbSNP=rs754960592; Zygosity=Heterozygous (PubMed=30731422).
Disease Small fiber neuropathy (NCIt: C125389)
Sodium channelopathy-related small fiber neuropathy (ORDO: Orphanet_306577)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 58Y
Category Induced pluripotent stem cell
Publications

PubMed=30731422; DOI=10.1016/j.scr.2019.101396
Klein T., Klug K., Henkel L., Kwok C.K., Edenhofer F., Klopocki E., Kurth I., Uceyler N.
Generation of two induced pluripotent stem cell lines from skin fibroblasts of sisters carrying a c.1094C>A variation in the SCN10A gene potentially associated with small fiber neuropathy.
Stem Cell Res. 35:101396-101396(2019)

Cross-references
Cell line databases/resources hPSCreg; UKWNLi003-A
Encyclopedic resources Wikidata; Q98134005
Entry history
Entry creation25-Feb-2019
Last entry update29-Jun-2023
Version number7