Cellosaurus logo
expasy logo

Cellosaurus XPHM12BE (CVCL_1F21)

[Text version]
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; 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
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)

PubMed=9671271; DOI=10.1002/(SICI)1098-1004(1998)12:2<103::AID-HUMU5>3.0.CO;2-6
States J.C., McDuffie E.R., Myrand S.P., McDowell M.L., Cleaver J.E.
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)

Cross-references
Cell line collections (Providers) Coriell; GM05568
Cell line databases/resources CLO; CLO_0024551
Encyclopedic resources Wikidata; Q54841876
Entry history
Entry creation08-Jul-2015
Last entry update30-Jan-2024
Version number14