| Cell line name |
XP1MA |
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| Synonyms |
Xeroderma Pigmentosum 1 MAnnheim |
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| Accession |
CVCL_ZR22 |
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| Resource Identification Initiative |
To cite this cell line use: XP1MA (RRID:CVCL_ZR22) |
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| Comments |
Population: Caucasian; Italian.
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.Asn359Valfs*32 (c.1075_1244del170) (Ex10del); Zygosity=Homozygous (PubMed=14705792).
|
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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 |
Female |
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| Age at sampling |
26Y |
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| Category |
Finite cell line |
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| Publications | PubMed=7161312; DOI=10.1007/BF00406246
Thielmann H.W., Popanda O., Edler L.
XP patients from Germany: correlation of colony-forming ability, unscheduled DNA synthesis and single-strand breaks after UV damage in xeroderma pigmentosum fibroblasts.
J. Cancer Res. Clin. Oncol. 104:263-286(1982) PubMed=7165374; DOI=10.1007/BF00403726
Fischer E., Thielmann H.W., Neundorfer B., Rentsch F.J., Edler L., Jung E.G.
Xeroderma pigmentosum patients from Germany: clinical symptoms and DNA repair characteristics.
Arch. Dermatol. Res. 274:229-247(1982) PubMed=3182904; DOI=10.1007/BF00391492
Popanda O., Thielmann H.W.
Comparison of DNA-incising capacities in fibroblast strains from the Mannheim XP collection after treatment with N-acetoxy-2-acetylaminofluorene and UV light.
J. Cancer Res. Clin. Oncol. 114:459-467(1988) PubMed=2054785
Thielmann H.W., Popanda O., Edler L., Jung E.G.
Clinical symptoms and DNA repair characteristics of xeroderma pigmentosum patients from Germany.
Cancer Res. 51:3456-3470(1991) PubMed=14705792; DOI=10.1034/j.1600-0625.2003.00124.x
Gratchev A., Strein P., Utikal J.S., Goerdt S.
Molecular genetics of xeroderma pigmentosum variant.
Exp. Dermatol. 12:529-536(2003) |
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| Cross-references |
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| Cell line collections (Providers) |
JCRB; KURB1282
|
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| Encyclopedic resources |
Wikidata; Q98135456
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| Entry history |
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| Entry creation | 02-Jul-2020 |
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| Last entry update | 10-Apr-2025 |
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| Version number | 8 |
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