| Cell line name |
XP63BR |
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| Synonyms |
Xeroderma Pigmentosum 63 BRighton |
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| Accession |
CVCL_ZV20 |
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| Resource Identification Initiative |
To cite this cell line use: XP63BR (RRID:CVCL_ZV20) |
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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:9181; POLH; Simple; p.Lys70Serfs*30 (c.207delG); ClinVar=VCV000005892; Zygosity=Heterozygous (PubMed=26884178).
- Mutation; HGNC; HGNC:9181; POLH; Simple; p.Leu77del (c.222_224TCT[1]) (c.225_227delTCT) (L75del); ClinVar=VCV000005893; Zygosity=Heterozygous (PubMed=26884178).
|
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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 |
Male |
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| Age at sampling |
55Y |
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| Category |
Finite cell line |
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| Publications | PubMed=26884178; DOI=10.1073/pnas.1519444113; PMCID=PMC4780618
Hiva Fassihi, Mieran Sethi, Heather Fawcett, Jonathan F. Wing, Natalie Chandler, Shehla Mohammed, Emma Craythorne, Ana M.S. Morley, Rong-Xuan Lim, Sally Turner, Tanya Henshaw ...Show all 25 authors... , Isabel Garrood, Paola Giunti, Tammy Hedderly, Adesoji Abiona, Harsha Naik, Gemma Harrop, David McGibbon, Nicolaas G.J. Jaspers, Elena Botta, Tiziana Nardo, Miria Stefanini, Antony R. Young, Robert Paul Edmond Sarkany, Alan R. Lehmann; Show fewer authors
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; Q98136013
|
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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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