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Cellosaurus UKWNLi002-A (CVCL_UG27)

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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.
Population: Caucasian.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:7808; NGF; Simple; p.Thr203Met (c.608C>T); Zygosity=Heterozygous (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
Publications

PubMed=30384131; DOI=10.1016/j.scr.2018.10.017
Thibaut Klein, Lisa Henkel, Katharina Klug, Chee Keong Kwok, Eva Klopocki, Nurcan Uceyler;
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)

Cross-references
Cell line databases/resources hPSCreg; UKWNLi002-A
Encyclopedic resources Wikidata; Q98134002
Entry history
Entry creation13-Nov-2018
Last entry update19-Dec-2024
Version number8