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 Thibaut Klein, Katharina Klug, Lisa Henkel, Chee Keong Kwok, Frank Edenhofer, Eva Klopocki, Ingo Kurth, Nurcan Uceyler; 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