Cellosaurus cell line XP29BE (CVCL

Cross-references
Cell line name	XP29BE
Synonyms	Xeroderma Pigmentosum 29 BEthesda; GM11613
Accession	CVCL_M298
Resource Identification Initiative	To cite this cell line use: XP29BE (RRID:CVCL_M298)
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:3434; ERCC2; Simple; p.Gln452Ter (c.1354C>T); ClinVar=VCV001455083; Zygosity=Heterozygous (PubMed=19934020). Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Arg683Trp (c.2047C>T); ClinVar=VCV000016793; Zygosity=Heterozygous (PubMed=19934020).
Disease	Xeroderma pigmentosum, complementation group D (NCIt: C3967) Xeroderma pigmentosum (ORDO: Orphanet_910)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_M297 ! XP29BE LCL
Sex of cell	Male
Age at sampling	22Y
Category	Finite cell line
Publications	PubMed=19934020; DOI=10.1084/jem.20091892; PMCID=PMC2806454 Ueda T., Compe E., Catez P., Kraemer K.H., Egly J.-M. Both XPD alleles contribute to the phenotype of compound heterozygote xeroderma pigmentosum patients. J. Exp. Med. 206:3031-3046(2009)
Cell line collections (Providers)	Coriell; GM11613
Cell line databases/resources	CLO; CLO_0021180
Encyclopedic resources	Wikidata; Q54845191
Entry history
Entry creation	05-Nov-2013
Last entry update	19-Dec-2024
Version number	15