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Cellosaurus XPCSH4BA (CVCL_1F28)

[Text version]
Cell line name XPCSH4BA
Synonyms Xeroderma Pigmentosum/Cockayne Syndrome Heterozygote 4 BAsel; GM13027
Accession CVCL_1F28
Resource Identification Initiative To cite this cell line use: XPCSH4BA (RRID:CVCL_1F28)
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.Lys157insThrSerAspSerTer (c.471+1G>A); ClinVar=VCV000016589; Zygosity=Heterozygous (PubMed=16947863).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 63Y
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; GM13027
Cell line databases/resources CLO; CLO_0014004
Biological sample resources BioSample; SAMN00802026
Encyclopedic resources Wikidata; Q54846270
Entry history
Entry creation08-Jul-2015
Last entry update19-Dec-2024
Version number12