| Cell line name |
XP1EH |
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| Synonyms |
Xeroderma Pigmentosum 1 EHime |
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| Accession |
CVCL_ZP79 |
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| Resource Identification Initiative |
To cite this cell line use: XP1EH (RRID:CVCL_ZP79) |
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| Comments |
Population: Japanese.
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:12814; XPA; Simple; c.390-1G>C (IVS3-1G>C); ClinVar=VCV000264684; Zygosity=Homozygous; Note=Splice acceptor mutation (PubMed=7905727).
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| Disease |
Xeroderma pigmentosum, complementation group A (NCIt: C3965)
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 |
1Y |
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| Category |
Finite cell line |
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| Publications | PubMed=2778352; DOI=10.1111/1523-1747.ep12284060
Chikako Nishigori, Yoshiki Miyachi, Sadao Imamura, Hiraku Takebe;
Reduced superoxide dismutase activity in xeroderma pigmentosum fibroblasts.
J. Invest. Dermatol. 93:506-510(1989) PubMed=1814424
Chikako Nishigori, Hiroshi Fujisawa, Kenichi Uyeno, T. Kawaguchi, Hiraku Takebe;
Xeroderma pigmentosum patients belonging to complementation group F and efficient liquid-holding recovery of ultraviolet damage.
Photodermatol. Photoimmunol. Photomed. 8:146-150(1991) PubMed=8101209; DOI=10.1111/1523-1747.ep12360046
Shin-ichi Moriwaki, Chikako Nishigori, Tatsuyuki Teramoto, Toshihiro Tanaka, Satoshi Kore-eda, Hiraku Takebe, Sadao Imamura;
Absence of DNA repair deficiency in the confirmed heterozygotes of xeroderma pigmentosum group A.
J. Invest. Dermatol. 101:69-72(1993) PubMed=7905727; DOI=10.1001/archderm.1994.01690020057009
Chikako Nishigori, Shinichi Moriwaki, Hiraku Takebe, Toshihiro Tanaka, Sadao Imamura;
Gene alterations and clinical characteristics of xeroderma pigmentosum group A patients in Japan.
Arch. Dermatol. 130:191-197(1994) |
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| Cross-references |
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| Cell line collections (Providers) |
JCRB; KURB1022
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| Encyclopedic resources |
Wikidata; Q98135418
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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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