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Cellosaurus XP131MA (CVCL_V276)

[Text version]
Cell line name XP131MA
Synonyms Xeroderma Pigmentosum 131 MAnnheim; GM21153
Accession CVCL_V276
Resource Identification Initiative To cite this cell line use: XP131MA (RRID:CVCL_V276)
Comments 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.Asp474Glufs*2 (c.1421dupA); ClinVar=VCV000134130; 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 Male
Age at sampling 27Y
Category Finite cell line
Publications

PubMed=10954218; DOI=10.1080/000155500750043032
Bartenjev I., Butina M.R., Potocnik M.
Rare case of Cockayne syndrome with xeroderma pigmentosum.
Acta Derm. Venereol. 80:213-214(2000)

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; GM21153
Cell line databases/resources CLO; CLO_0015858
Encyclopedic resources Wikidata; Q54851704
Entry history
Entry creation16-Apr-2014
Last entry update19-Dec-2024
Version number15