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Cellosaurus UKWNLi002-A (CVCL_UG27)

[Text version]

Cell line name UKWNLi002-A
Synonyms HSAN5-T203M-iPSC
Accession CVCL_UG27
Resource Identification Initiative To cite this cell line use: UKWNLi002-A (RRID:CVCL_UG27)
Comments From: Department of Neurology, University of Wurzburg; Wurzburg; Germany.
Sequence variations Heterozygous for NGF p.Thr203Met (c.608C>T) (PubMed=30384131).
Disease Neuropathy, hereditary sensory and autonomic, type V (NCIt: C156360)
Hereditary sensory and autonomic neuropathy type 5 (ORDO: Orphanet_64752)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 72Y
Category Induced pluripotent stem cell

PubMed=30384131; DOI=10.1016/j.scr.2018.10.017
Klein T., Henkel L., Klug K., Kwok C.K., Klopocki E., Uceyler N.
Generation of the human induced pluripotent stem cell line UKWNLi002-A from dermal fibroblasts of a woman with a heterozygous c.608 C>T (p.Thr203Met) mutation in exon 3 of the nerve growth factor gene potentially associated with hereditary sensory and autonomic neuropathy type 5.
Stem Cell Res. 33:171-174(2018)

Cell line databases/resources hPSCreg; UKWNLi002-A
Entry history
Entry creation13-Nov-2018
Last entry updated12-Mar-2020
Version number2