| Cell line name |
XP109BR |
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| Synonyms |
Xeroderma Pigmentosum 109 BRighton |
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| Accession |
CVCL_ZU97 |
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| Resource Identification Initiative |
To cite this cell line use: XP109BR (RRID:CVCL_ZU97) |
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| Comments |
Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620. |
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| Sequence variations |
- Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Leu461Val (c.1381C>G); ClinVar=VCV000016779; Zygosity=Heterozygous (PubMed=26884178).
- Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Arg683Trp (c.2047C>T); ClinVar=VCV000016793; Zygosity=Heterozygous (PubMed=26884178).
- Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Ala717Gly (c.2150C>G) (p.Val716_Arg730del); ClinVar=VCV000134102; Zygosity=Heterozygous; Note=Creates a cryptic donor splice site (PubMed=26884178).
|
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| Disease |
Xeroderma pigmentosum, complementation group D (NCIt: C3967)
Xeroderma pigmentosum (ORDO: Orphanet_910) |
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| Species of origin |
Homo sapiens (Human)
(NCBI Taxonomy: 9606) |
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| Sex of cell |
Male |
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| Age at sampling |
4Y |
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| Category |
Finite cell line |
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| Publications | PubMed=26884178; DOI=10.1073/pnas.1519444113; PMCID=PMC4780618
Fassihi H., Sethi M., Fawcett H., Wing J.F., Chandler N., Mohammed S., Craythorne E., Morley A.M.S., Lim R.-X., Turner S., Henshaw T., Garrood I., Giunti P., Hedderly T., Abiona A., Naik H., Harrop G., McGibbon D., Jaspers N.G.J., Botta E., Nardo T., Stefanini M., Young A.R., Sarkany R.P.E., Lehmann A.R.
Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect.
Proc. Natl. Acad. Sci. U.S.A. 113:E1236-E1245(2016) |
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| Cross-references |
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| Encyclopedic resources |
Wikidata; Q98135198
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| Entry history |
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| Entry creation | 02-Jul-2020 |
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| Last entry update | 19-Dec-2024 |
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| Version number | 8 |
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