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Cellosaurus XP131MA (CVCL_V276)

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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
Igor Bartenjev, Mirjam Rogl Butina, Marko Potocnik;
Rare case of Cockayne syndrome with xeroderma pigmentosum.
Acta Derm. Venereol. 80:213-214(2000)

PubMed=16947863; DOI=10.1002/humu.20392
Kyu-Seon Oh, Sikandar G. Khan, Nicolaas G.J. Jaspers, Anja Raams, Takahiro Ueda, Alan R. Lehmann, Peter S. Friedmann, Steffen Emmert, Alexei Gratchev, Katherine Lachlan, Anneke Lucassan ...Show all 13 authors... , Carl C. Baker, Kenneth H. Kraemer; Show fewer authors
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