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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
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; 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