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Cellosaurus XP96TA (CVCL_M311)

[Text version]
Cell line name XP96TA
Synonyms Xeroderma Pigmentosum 96 Tel Aviv; GM16180
Accession CVCL_M311
Resource Identification Initiative To cite this cell line use: XP96TA (RRID:CVCL_M311)
Comments Population: Palestinian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 3437; ERCC5; Simple; p.Leu308Serfs*12 (c.922_923delTC) (1116delTC); ClinVar=VCV000929130; Zygosity=Homozygous (PubMed=12060391; PubMed=26184184).
Disease Xeroderma pigmentosum, complementation group G (NCIt: C3969)
Xeroderma pigmentosum (ORDO: Orphanet_910)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 6Y
Category Finite cell line
Publications

PubMed=12060391; DOI=10.1046/j.1523-1747.2002.01782.x
Emmert S., Slor H., Busch D.B., Batko S., Albert R.B., Coleman D.M., Khan S.G., Abu-Libdeh B., DiGiovanna J.J., Cunningham B.B., Lee M.-M., Crollick J., Inui H., Ueda T., Hedayati M., Grossman L., Shahlavi T., Cleaver J.E., Kraemer K.H.
Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients.
J. Invest. Dermatol. 118:972-982(2002)

PubMed=26184184; DOI=10.3390/ijms160715985
Bowden N.A., Beveridge N.J., Ashton K.A., Baines K.J., Scott R.J.
Understanding xeroderma pigmentosum complementation groups using gene expression profiling after UV-light exposure.
Int. J. Mol. Sci. 16:15985-15996(2015)

Cross-references
Cell line collections (Providers) Coriell; GM16180
Cell line databases/resources CLO; CLO_0019814
Encyclopedic resources Wikidata; Q54848343
Entry history
Entry creation05-Nov-2013
Last entry update29-Jun-2023
Version number16