| Cell line name |
XPLA-Be |
|---|
| Synonyms |
XPLABE |
|---|
| Accession |
CVCL_ZN42 |
|---|
| Resource Identification Initiative |
To cite this cell line use: XPLA-Be (RRID:CVCL_ZN42) |
|---|
| 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.Tyr542Cys (c.1625A>G); Zygosity=Heterozygous (PubMed=9238033).
- Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Arg616Pro (c.1847G>C); ClinVar=VCV000329508; Zygosity=Heterozygous (PubMed=9238033).
|
|---|
| 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 |
Female |
|---|
| Age at sampling |
15Y |
|---|
| Category |
Finite cell line |
|---|
| Publications | PubMed=2913963; DOI=10.1001/archderm.1989.01670140115022
Kenneth H. Kraemer, Meenhard Herlyn, Stuart Howard Yuspa, Wallace H. Clark Jr., G. Kevin Townsend, Gabrielle R. Neises, Vincent J. Hearing;
Reduced DNA repair in cultured melanocytes and nevus cells from a patient with xeroderma pigmentosum.
Arch. Dermatol. 125:263-268(1989) PubMed=9238033; DOI=10.1073/pnas.94.16.8658; PMCID=PMC23065
Elaine M. Taylor, Bernard C. Broughton, Elena Botta, Miria Stefanini, Alain Sarasin, Nicolaas G.J. Jaspers, Heather Fawcett, Susan A. Harcourt, Colin Francis Arlett, Alan R. Lehmann;
Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene.
Proc. Natl. Acad. Sci. U.S.A. 94:8658-8663(1997) |
|---|
| Cross-references |
|---|
| Encyclopedic resources |
Wikidata; Q98136349
|
|---|
| Entry history |
|---|
| Entry creation | 02-Jul-2020 |
|---|
| Last entry update | 19-Dec-2024 |
|---|
| Version number | 8 |
|---|
