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Cellosaurus UKWNLi008-C (CVCL_D0ND)

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Cell line name UKWNLi008-C
Synonyms SFN 1097_5
Accession CVCL_D0ND
Resource Identification Initiative To cite this cell line use: UKWNLi008-C (RRID:CVCL_D0ND)
Comments From: Department of Neurology, University of Wurzburg; Wurzburg; Germany.
Population: Caucasian.
Derived from site: In situ; Leg, skin, dermis; UBERON=UBERON_0001511+UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:497; TRPA1; Simple; p.His560Asp (c.1678C>G); Zygosity=Heterozygous (PubMed=37079968).
Disease Small fiber neuropathy (NCIt: C125389)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_D0NB ! UKWNLi008-A
CVCL_D0NC ! UKWNLi008-B
Sex of cell Male
Age at sampling 44Y
Category Induced pluripotent stem cell
Publications

PubMed=37079968; DOI=10.1016/j.scr.2023.103094
Nicole Michelle Schottmann, Katharina Klug, Eva Klopocki, Nurcan Uceyler;
Generation of induced pluripotent stem cell line (UKWNLi008) derived from a patient carrying a c.1678C>G variant in the transient receptor potential cation channel subfamily A member (TRPA1) gene potentially associated with small fiber neuropathy.
Stem Cell Res. 69:103094-103094(2023)

Cross-references
Cell line databases/resources hPSCreg; UKWNLi008-C
Biological sample resources BioSamples; SAMEA112359778
Encyclopedic resources Wikidata; Q123033721
Entry history
Entry creation05-Oct-2023
Last entry update19-Dec-2024
Version number3