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Cellosaurus XP183MA (CVCL_V274)

[Text version]
Cell line name XP183MA
Synonyms Xeroderma Pigmentosum 183 MAnnheim; GM21072
Accession CVCL_V274
Resource Identification Initiative To cite this cell line use: XP183MA (RRID:CVCL_V274)
Comments Population: Caucasian; German.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:3435; ERCC3; Simple; p.Gln545Ter (c.1633C>T); ClinVar=VCV000016588; Zygosity=Heterozygous (PubMed=16947863).
  • Mutation; HGNC; HGNC:3435; ERCC3; Simple; p.Gln739fs*42 (c.2218-6C>A) (IVS14-6C>A); Zygosity=Heterozygous (PubMed=16947863).
Disease Xeroderma pigmentosum-Cockayne syndrome complex (NCIt: C156031)
Xeroderma pigmentosum-Cockayne syndrome complex (ORDO: Orphanet_220295)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 10Y
Category Finite cell line
Publications

PubMed=16947863; DOI=10.1002/humu.20392
Oh K.-S., Khan S.G., Jaspers N.G.J., Raams A., Ueda T., Lehmann A.R., Friedmann P.S., Emmert S., Gratchev A., Lachlan K., Lucassan A., Baker C.C., Kraemer K.H.
Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome.
Hum. Mutat. 27:1092-1103(2006)

Cross-references
Cell line collections (Providers) Coriell; GM21072
Cell line databases/resources CLO; CLO_0015394
Encyclopedic resources Wikidata; Q54851623
Entry history
Entry creation16-Apr-2014
Last entry update19-Dec-2024
Version number14