ID   XP1EHM
AC   CVCL_ZW29
SY   Xeroderma Pigmentosum 1 EHime Mother
DR   Wikidata; Q102115129
RX   PubMed=8101209;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:12814; XPA; Simple; c.390-1G>C (IVS3-1G>C); ClinVar=VCV000264684; Zygosity=Heterozygous; Note=Splice acceptor mutation (from familial inference of XP1EH).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   Adult
CA   Finite cell line
DT   Created: 29-10-20; Last updated: 19-12-24; Version: 7
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RX   PubMed=8101209; DOI=10.1111/1523-1747.ep12360046;
RA   Moriwaki S.-i., Nishigori C., Teramoto T., Tanaka T., Kore-eda S.,
RA   Takebe H., Imamura S.;
RT   "Absence of DNA repair deficiency in the confirmed heterozygotes of
RT   xeroderma pigmentosum group A.";
RL   J. Invest. Dermatol. 101:69-72(1993).
//