Cellosaurus cell line XP1SE [Seoul] (CVCL

Cross-references
Cell line name	XP1SE [Seoul]
Synonyms	Xeroderma Pigmentosum 1 SEoul
Accession	CVCL_ZN95
Resource Identification Initiative	To cite this cell line use: XP1SE [Seoul] (RRID:CVCL_ZN95)
Comments	Population: Korean. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:9181; POLH; Simple; p.Glu164Ter (c.490G>T); ClinVar=VCV000225444; Zygosity=Homozygous (PubMed=18368133).
Disease	Xeroderma pigmentosum variant type (NCIt: C141367) Xeroderma pigmentosum variant (ORDO: Orphanet_90342)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	66Y
Category	Finite cell line
Publications	PubMed=18368133; DOI=10.1038/jid.2008.48; PMCID=PMC2562952 Inui H., Oh K.-S., Nadem C., Ueda T., Khan S.G., Metin A., Gozukara E.M., Emmert S., Slor H., Busch D.B., Baker C.C., DiGiovanna J.J., Tamura D., Seitz C.S., Gratchev A., Wu W.-H., Chung K.Y., Chung H.J., Azizi E., Woodgate R., Schneider T.D., Kraemer K.H. Xeroderma pigmentosum-variant patients from America, Europe, and Asia. J. Invest. Dermatol. 128:2055-2068(2008)
Encyclopedic resources	Wikidata; Q98135487
Entry history
Entry creation	02-Jul-2020
Last entry update	19-Dec-2024
Version number	7