Cellosaurus logo
expasy logo

Cellosaurus XP82DC (CVCL_M312)

[Text][XML][JSON]
Cell line name XP82DC
Synonyms GM16181
Accession CVCL_M312
Resource Identification Initiative To cite this cell line use: XP82DC (RRID:CVCL_M312)
Comments Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:3437; ERCC5; Simple; p.Gln16Ter (c.46C>T); Zygosity=Heterozygous (PubMed=12060391).
  • Mutation; HGNC; HGNC:3437; ERCC5; Simple; p.Val869Glyfs*11 (c.2606_2607delTG) (c.2604_2605TG[1]) (2801delTG); ClinVar=VCV001065165; Zygosity=Heterozygous (PubMed=12060391).
Disease Xeroderma pigmentosum, complementation group G (NCIt: C3969)
Xeroderma pigmentosum (ORDO: Orphanet_910)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 5-6Y
Category Finite cell line
Publications

PubMed=12060391; DOI=10.1046/j.1523-1747.2002.01782.x
Steffen Emmert, Hanoch Slor, David B. Busch, Sima Batko, Roberta B. Albert, Donna M. Coleman, Sikandar G. Khan, Bassam Abu-Libdeh, John Joseph DiGiovanna, Bari Bickel Cunningham, Myung-Moo Lee ...Show all 19 authors... , Jill S. Crollick, Hiroki Inui, Takahiro Ueda, Mohammad Hedayati, Lawrence Grossman, Tala Shahlavi, James Edward Cleaver, Kenneth H. Kraemer; Show fewer authors
Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients.
J. Invest. Dermatol. 118:972-982(2002)

Cross-references
Cell line collections (Providers) Coriell; GM16181
Cell line databases/resources CLO; CLO_0019815
Encyclopedic resources Wikidata; Q54848345
Entry history
Entry creation05-Nov-2013
Last entry update19-Dec-2024
Version number17