Cellosaurus cell line XPHM12BE (CVCL

Cellosaurus XPHM12BE (CVCL_1F21)

Cross-references
Cell line name	XPHM12BE
Synonyms	Xeroderma Pigmentosum Heterozygote Male 12 BEthesda; GM05568; GM5568; GM 5568
Accession	CVCL_1F21
Resource Identification Initiative	To cite this cell line use: XPHM12BE (RRID:CVCL_1F21)
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:12814; XPA; Simple; c.507-1G>T (IVS3-1G>T); Zygosity=Heterozygous; Note=Splice acceptor mutation (Coriell=GM05568).
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_1F22 ! XPHM12BE LCL
Sex of cell	Male
Age at sampling	47Y
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) PubMed=9671271; DOI=10.1002/(SICI)1098-1004(1998)12:2<103::AID-HUMU5>3.0.CO;2-6 J. Christopher States, E.R. McDuffie, Scott P. Myrand, Mindy L. McDowell, James Edward Cleaver; Distribution of mutations in the human xeroderma pigmentosum group A gene and their relationships to the functional regions of the DNA damage recognition protein. Hum. Mutat. 12:103-113(1998)
Cell line collections (Providers)	Coriell; GM05568
Cell line databases/resources	CLO; CLO_0024551
Encyclopedic resources	Wikidata; Q54841876
Entry history
Entry creation	08-Jul-2015
Last entry update	19-Dec-2024
Version number	15