ID   UKWNLi002-A
AC   CVCL_UG27
SY   HSAN5-T203M-iPSC
DR   hPSCreg; UKWNLi002-A
DR   Wikidata; Q98134002
RX   PubMed=30384131;
CC   From: Department of Neurology, University of Wurzburg; Wurzburg; Germany.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 7808; NGF; Simple; p.Thr203Met (c.608C>T); Zygosity=Heterozygous (PubMed=30384131).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C156360; Neuropathy, hereditary sensory and autonomic, type V
DI   ORDO; Orphanet_64752; Hereditary sensory and autonomic neuropathy type 5
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   72Y
CA   Induced pluripotent stem cell
DT   Created: 13-11-18; Last updated: 29-06-23; Version: 7
//
RX   PubMed=30384131; DOI=10.1016/j.scr.2018.10.017;
RA   Klein T., Henkel L., Klug K., Kwok C.K., Klopocki E., Uceyler N.;
RT   "Generation of the human induced pluripotent stem cell line
RT   UKWNLi002-A from dermal fibroblasts of a woman with a heterozygous
RT   c.608 C>T (p.Thr203Met) mutation in exon 3 of the nerve growth factor
RT   gene potentially associated with hereditary sensory and autonomic
RT   neuropathy type 5.";
RL   Stem Cell Res. 33:171-174(2018).
//