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Cellosaurus GM17542 (CVCL_RG80)

[Text version]
Cell line name GM17542
Synonyms XPTTD306BE
Accession CVCL_RG80
Resource Identification Initiative To cite this cell line use: GM17542 (RRID:CVCL_RG80)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Ser51Phe (c.152C>T); Zygosity=Heterozygous (PubMed=18470933).
  • Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Arg722Trp (c.2164C>T); ClinVar=VCV000016792; Zygosity=Heterozygous (PubMed=18470933).
Disease Trichothiodystrophy 1, photosensitive (NCIt: C156433)
Xeroderma pigmentosum, complementation group D (NCIt: C3967)
Trichothiodystrophy (ORDO: Orphanet_33364)
Xeroderma pigmentosum (ORDO: Orphanet_910)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 11Y
Category Finite cell line
Publications

PubMed=18470933; DOI=10.1002/humu.20768; PMCID=PMC3477783
Boyle J., Ueda T., Oh K.-S., Imoto K., Tamura D., Jagdeo J., Khan S.G., Nadem C., DiGiovanna J.J., Kraemer K.H.
Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy.
Hum. Mutat. 29:1194-1208(2008)

Cross-references
Cell line collections (Providers) Coriell; GM17542 - Discontinued
Encyclopedic resources Wikidata; Q54848965
Entry history
Entry creation05-Mar-2018
Last entry update19-Dec-2024
Version number11