Cellosaurus cell line UKWNLi003-A (CVCL

Cross-references
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; 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)
Cell line databases/resources	hPSCreg; UKWNLi003-A
Encyclopedic resources	Wikidata; Q98134005
Entry history
Entry creation	25-Feb-2019
Last entry update	19-Dec-2024
Version number	8