Cellosaurus cell line XPH134BE (CVCL

Cellosaurus XPH134BE (CVCL_L461)

Cross-references
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; 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 Fujio Otsuka, Robert E. Tarone, Sophie Cayeux, Jay H. Robbins; Use of lymphoblastoid cell lines to evaluate the hypersensitivity to ultraviolet radiation in Cockayne syndrome. J. Invest. Dermatol. 82:480-484(1984) CLPUB00447 Richard A. Mulivor, Sharon F. Suchy; 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)
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 creation	06-May-2013
Last entry update	19-Dec-2024
Version number	14