| Cell line name |
XP2DU |
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| Synonyms |
Xeroderma Pigmentosum 2 DUndee |
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| Accession |
CVCL_ZN32 |
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| Resource Identification Initiative |
To cite this cell line use: XP2DU (RRID:CVCL_ZN32) |
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| Comments |
Population: Caucasian; Scottish.
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:9181; POLH; Simple; p.Lys70Serfs*30 (c.207delG); ClinVar=VCV000005892; Zygosity=Heterozygous (PubMed=11773631).
- Mutation; HGNC; HGNC:9181; POLH; Simple; p.Leu77del (c.222_224TCT[1]) (c.225_227delTCT) (L75del); ClinVar=VCV000005893; Zygosity=Heterozygous (PubMed=11773631).
|
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| Disease |
Xeroderma pigmentosum variant type (NCIt: C141367)
Xeroderma pigmentosum variant (ORDO: Orphanet_90342) |
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| Species of origin |
Homo sapiens (Human)
(NCBI Taxonomy: 9606) |
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| Sex of cell |
Sex unspecified |
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| Age at sampling |
44Y |
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| Category |
Finite cell line |
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| Publications | PubMed=11773631; DOI=10.1073/pnas.022473899; PMCID=PMC117388
Bernard C. Broughton, Agnes M. Cordonnier, Wim J. Kleijer, Nicolaas G.J. Jaspers, Heather Fawcett, Anja Raams, Victor H. Garritsen, Anne Stary, Marie-Francoise Avril, Francois Boudsocq, Chikahide Masutani ...Show all 15 authors... , Fumio Hanaoka, Robert P.P. Fuchs, Alain Sarasin, Alan R. Lehmann; Show fewer authors
Molecular analysis of mutations in DNA polymerase eta in xeroderma pigmentosum-variant patients.
Proc. Natl. Acad. Sci. U.S.A. 99:815-820(2002) PubMed=18079351; DOI=10.1259/bjr/27072321
Colin Francis Arlett, Michael H.L. Green, Paul Bryan Rogers, Alan R. Lehmann, Piers N. Plowman;
Minimal ionizing radiation sensitivity in a large cohort of xeroderma pigmentosum fibroblasts.
Br. J. Radiol. 81:51-58(2008) |
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| Cross-references |
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| Encyclopedic resources |
Wikidata; Q98135641
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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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