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 Kyoko Imoto, Jennifer Boyle, Kyu-Seon Oh, Sikandar G. Khan, Takahiro Ueda, Carine Nadem, Hanoch Slor, Shlomi Orgal, Natan Gadoth, David B. Busch, Nicolaas G.J. Jaspers ...Show all 14 authors... , Deborah Tamura, John Joseph DiGiovanna, Kenneth H. Kraemer; Show fewer authors 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