Cellosaurus cell line UKERi313-R1 (CVCL

Cellosaurus UKERi313-R1 (CVCL_YN19)

Cross-references
Cell line name	UKERi313-R1
Accession	CVCL_YN19
Resource Identification Initiative	To cite this cell line use: UKERi313-R1 (RRID:CVCL_YN19)
Comments	From: Universitatsklinikum Erlangen (UKER); Erlangen; Germany. Population: Caucasian; Norwegian. Omics: Deep exome analysis. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:10582; SCN10A; Simple; p.Arg923His (c.2768G>A); ClinVar=VCV000936757; Zygosity=Unspecified (PubMed=30503201). Mutation; HGNC; HGNC:10583; SCN11A; Simple; p.Asn1169Ser (c.3506A>G); ClinVar=VCV000474720; Zygosity=Unspecified (PubMed=30503201).
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	69Y
Category	Induced pluripotent stem cell
Publications	PubMed=30503201; DOI=10.1016/j.ebiom.2018.11.042; PMCID=PMC6354557 Namer B., Schmidt D., Eberhardt E., Maroni M., Dorfmeister E., Kleggetveit I.P., Kaluza L., Meents J.E., Gerlach A., Lin Z.-X., Winterpacht A., Dragicevic E., Kohl Z., Schuttler J., Kurth I., Warncke T., Jorum E., Winner B., Lampert A. Pain relief in a neuropathy patient by lacosamide: proof of principle of clinical translation from patient-specific iPS cell-derived nociceptors. EBioMedicine 39:401-408(2019)
Encyclopedic resources	Wikidata; Q98133964
Entry history
Entry creation	12-Mar-2020
Last entry update	19-Dec-2024
Version number	8