Cellosaurus cell line XP96TA (CVCL

Cellosaurus XP96TA (CVCL_M311)

Cross-references
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; 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; PMCID=PMC4519934 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)
Cell line collections (Providers)	Coriell; GM16180
Cell line databases/resources	CLO; CLO_0019814
Encyclopedic resources	Wikidata; Q54848343
Entry history
Entry creation	05-Nov-2013
Last entry update	19-Dec-2024
Version number	17