| Cell line name |
XP16VI |
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| Synonyms |
Xeroderma Pigmentosum 16 VIllejuif |
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| Accession |
CVCL_ZR32 |
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| Resource Identification Initiative |
To cite this cell line use: XP16VI (RRID:CVCL_ZR32) |
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| Comments |
Population: Algerian.
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:12816; XPC; Simple; p.Val548Alafs*25 (c.1639_1640TG[2]) (c.1643_1644delTG) (1744_1745delTG); ClinVar=VCV000000262; Zygosity=Homozygous (PubMed=16081512).
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| Disease |
Xeroderma pigmentosum, complementation group C (NCIt: C114770)
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 |
Female |
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| Age at sampling |
19Y |
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| Category |
Finite cell line |
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| Publications | PubMed=9415314; DOI=10.1038/sj.gt.3300495
Lin Zeng, Xavier Quilliet, Odile Chevallier-Lagente, Eric Eveno, Alain Sarasin, Mauro Mezzina;
Retrovirus-mediated gene transfer corrects DNA repair defect of xeroderma pigmentosum cells of complementation groups A, B and C.
Gene Ther. 4:1077-1084(1997) PubMed=16081512; DOI=10.1093/carcin/bgi204
Sikandar G. Khan, Kyu-Seon Oh, Tala Shahlavi, Takahiro Ueda, David B. Busch, Hiroki Inui, Steffen Emmert, Kyoko Imoto, Vanessa Muniz-Medina, Carl C. Baker, John Joseph DiGiovanna ...Show all 18 authors... , Deborah Schmidt, Arash Khadavi, Ahmet Metin, Engin Mevlut Gozukara, Hanoch Slor, Alain Sarasin, Kenneth H. Kraemer; Show fewer authors
Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients.
Carcinogenesis 27:84-94(2006) |
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| Cross-references |
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| Encyclopedic resources |
Wikidata; Q98135360
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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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