Cellosaurus cell line XPH396BE (CVCL

Cross-references
Cell line name	XPH396BE
Synonyms	Xeroderma Pigmentosum Heterozygote 396 BEthesda; JA1358
Accession	CVCL_ZP76
Resource Identification Initiative	To cite this cell line use: XPH396BE (RRID:CVCL_ZP76)
Comments	Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:12816; XPC; Simple; p.Met1Arg (c.2T>G); ClinVar=VCV001066146; Zygosity=Heterozygous (PubMed=18955168).
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	Adult
Category	Finite cell line
Publications	PubMed=18955168; DOI=10.1016/j.dnarep.2008.09.007; PMCID=PMC2684809 Khan S.G., Oh K.-S., Emmert S., Imoto K., Tamura D., DiGiovanna J.J., Shahlavi T., Armstrong N., Baker C.C., Neuburg M., Zalewski C., Brewer C.C., Wiggs E., Schiffmann R., Kraemer K.H. XPC initiation codon mutation in xeroderma pigmentosum patients with and without neurological symptoms. DNA Repair 8:114-125(2009)
Encyclopedic resources	Wikidata; Q98136326
Entry history
Entry creation	02-Jul-2020
Last entry update	19-Dec-2024
Version number	8