Cellosaurus cell line AS553 (CVCL

Cross-references
Cell line name	AS553
Accession	CVCL_ZR71
Resource Identification Initiative	To cite this cell line use: AS553 (RRID:CVCL_ZR71)
Comments	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.Ile456del (c.1361_1363TCA[2]) (1439_1441delTCA); ClinVar=VCV000620626; 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)
Sex of cell	Male
Age at sampling	35Y
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)
Encyclopedic resources	Wikidata; Q98125497
Entry history
Entry creation	02-Jul-2020
Last entry update	19-Dec-2024
Version number	8