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Cellosaurus XP183MA (CVCL_V274)

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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
Kyu-Seon Oh, Sikandar G. Khan, Nicolaas G.J. Jaspers, Anja Raams, Takahiro Ueda, Alan Robert Lehmann, Peter Simon 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; 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