Cellosaurus cell line XP29BE LCL (CVCL

Cross-references
Cell line name	XP29BE LCL
Synonyms	Xeroderma Pigmentosum 29 BEthesda LCL; GM11612
Accession	CVCL_M297
Resource Identification Initiative	To cite this cell line use: XP29BE LCL (RRID:CVCL_M297)
Comments	Population: Caucasian. Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV). Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Gln452Ter (c.1354C>T); ClinVar=VCV001455083; Zygosity=Heterozygous (from autologous cell line XP29BE). Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Arg683Trp (c.2047C>T); ClinVar=VCV000016793; Zygosity=Heterozygous (from autologous cell line XP29BE).
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_M298 ! XP29BE
Sex of cell	Male
Age at sampling	22Y
Category	Transformed cell line
Cell line collections (Providers)	Coriell; GM11612
Cell line databases/resources	CLO; CLO_0021181
Encyclopedic resources	Wikidata; Q54845190
Entry history
Entry creation	05-Nov-2013
Last entry update	19-Dec-2024
Version number	17