Cellosaurus cell line XP202DC (CVCL

Cross-references
Cell line name	XP202DC
Accession	CVCL_ZP22
Resource Identification Initiative	To cite this cell line use: XP202DC (RRID:CVCL_ZP22)
Comments	Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:3433; ERCC1; Simple; c.604-26G>A; Zygosity=Heterozygous (CelloPub=CLPUB00562). Mutation; HGNC; HGNC:3433; ERCC1; Simple; p.Lys226Ter (c.676A>T); ClinVar=VCV000264678; Zygosity=Heterozygous (CelloPub=CLPUB00562).
Disease	Xeroderma pigmentosum (NCIt: C3452) Xeroderma pigmentosum (ORDO: Orphanet_910)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	15-37Y
Category	Finite cell line
Publications	CLPUB00562 Imoto K., Boyle J., Oh K.-S., Khan S.G., Ueda T., Nadem C., Slor H., Orgal S., Gadoth N., Busch D.B., Jaspers N.G.J., Tamura D., DiGiovanna J.J., Kraemer K.H. Patients with defects in the interacting nucleotide excision repair proteins ERCC1 or XPF show xeroderma pigmentosum with late onset severe neurological degeneration. J. Invest. Dermatol. 127 Suppl. 1:S92-S92(2007)
Encyclopedic resources	Wikidata; Q98135502
Entry history
Entry creation	02-Jul-2020
Last entry update	19-Dec-2024
Version number	8