ID   UKERi313-R1
AC   CVCL_YN19
DR   Wikidata; Q98133964
RX   PubMed=30503201;
CC   From: Universitatsklinikum Erlangen (UKER); Erlangen; Germany.
CC   Population: Caucasian; Norwegian.
CC   Sequence variation: Mutation; HGNC; HGNC:10582; SCN10A; Simple; p.Arg923His (c.2768G>A); ClinVar=VCV000936757; Zygosity=Unspecified (PubMed=30503201).
CC   Sequence variation: Mutation; HGNC; HGNC:10583; SCN11A; Simple; p.Asn1169Ser (c.3506A>G); ClinVar=VCV000474720; Zygosity=Unspecified (PubMed=30503201).
CC   Omics: Deep exome analysis.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C125389; Small fiber neuropathy
DI   ORDO; Orphanet_306577; Sodium channelopathy-related small fiber neuropathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   69Y
CA   Induced pluripotent stem cell
DT   Created: 12-03-20; Last updated: 19-12-24; Version: 8
//
RX   PubMed=30503201; DOI=10.1016/j.ebiom.2018.11.042; PMCID=PMC6354557;
RA   Namer B., Schmidt D., Eberhardt E., Maroni M., Dorfmeister E.,
RA   Kleggetveit I.P., Kaluza L., Meents J.E., Gerlach A., Lin Z.-X.,
RA   Winterpacht A., Dragicevic E., Kohl Z., Schuttler J., Kurth I.,
RA   Warncke T., Jorum E., Winner B., Lampert A.;
RT   "Pain relief in a neuropathy patient by lacosamide: proof of principle
RT   of clinical translation from patient-specific iPS cell-derived
RT   nociceptors.";
RL   EBioMedicine 39:401-408(2019).
//