ID   UKWNLi008-C
AC   CVCL_D0ND
SY   SFN 1097_5
DR   BioSamples; SAMEA112359778
DR   hPSCreg; UKWNLi008-C
DR   Wikidata; Q123033721
RX   PubMed=37079968;
CC   From: Department of Neurology, University of Wurzburg; Wurzburg; Germany.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 497; TRPA1; Simple; p.His560Asp (c.1678C>G); Zygosity=Heterozygous (PubMed=37079968).
CC   Derived from site: In situ; Leg, skin, dermis; UBERON=UBERON_0001511+UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C125389; Small fiber neuropathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_D0NB ! UKWNLi008-A
OI   CVCL_D0NC ! UKWNLi008-B
SX   Male
AG   44Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 30-01-24; Version: 2
//
RX   PubMed=37079968; DOI=10.1016/j.scr.2023.103094;
RA   Schottmann N.M., Klug K., Klopocki E., Uceyler N.;
RT   "Generation of induced pluripotent stem cell line (UKWNLi008) derived
RT   from a patient carrying a c.1678C>G variant in the transient receptor
RT   potential cation channel subfamily A member (TRPA1) gene potentially
RT   associated with small fiber neuropathy.";
RL   Stem Cell Res. 69:103094-103094(2023).
//