Cellosaurus cell line XP65BE (CVCL

Cellosaurus XP65BE (CVCL_M316)

Cross-references
Cell line name	XP65BE
Synonyms	Xeroderma Pigmentosum 65 BEthesda; GM16398
Accession	CVCL_M316
Resource Identification Initiative	To cite this cell line use: XP65BE (RRID:CVCL_M316)
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:3437; ERCC5; Simple; p.Gln136Ter (c.406C>T) (C603T); ClinVar=VCV000016578; Zygosity=Heterozygous (PubMed=12060391). Mutation; HGNC; HGNC:3437; ERCC5; Simple; p.Ala874Thr (c.2620G>A) (G2817A); ClinVar=VCV000016577; Zygosity=Heterozygous (PubMed=12060391).
Disease	Xeroderma pigmentosum, complementation group G (NCIt: C3969) Xeroderma pigmentosum (ORDO: Orphanet_910)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_M310 ! XP65BE LCL
Sex of cell	Female
Age at sampling	13Y
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)
Cell line collections (Providers)	Coriell; GM16398
Cell line databases/resources	CLO; CLO_0019512
Encyclopedic resources	Wikidata; Q54848508
Entry history
Entry creation	05-Nov-2013
Last entry update	19-Dec-2024
Version number	15