Cellosaurus logo
expasy logo

Cellosaurus XPH134BE (CVCL_L461)

[Text version]
Cell line name XPH134BE
Synonyms Xeroderma Pigmentosum Heterozygote 134 BEthesda; XP-CS-HF-1; GM01854; GM-1854; GM 1854
Accession CVCL_L461
Resource Identification Initiative To cite this cell line use: XPH134BE (RRID:CVCL_L461)
Comments Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 3435; ERCC3; Simple; p.Gln739fs*42 (c.2218-6C>A) (IVS14-6C>A); Zygosity=Heterozygous (from autologous cell line XPH134BE LCL).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_L462 ! XPH134BE LCL
Sex of cell Female
Age at sampling 64Y
Category Finite cell line
Publications

PubMed=6096450; DOI=10.1111/1523-1747.ep12260999
Otsuka F., Tarone R.E., Cayeux S., Robbins J.H.
Use of lymphoblastoid cell lines to evaluate the hypersensitivity to ultraviolet radiation in Cockayne syndrome.
J. Invest. Dermatol. 82:480-484(1984)

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

Cross-references
Cell line collections (Providers) Coriell; GM01854
Cell line databases/resources CLO; CLO_0031424
Biological sample resources BioSample; SAMN00807225
Encyclopedic resources Wikidata; Q54837127
Entry history
Entry creation06-May-2013
Last entry update29-Jun-2023
Version number13