ID XPH28RO AC CVCL_ZR51 SY Xeroderma Pigmentosum Heterozygote 28 ROtterdam DR Wikidata; Q98136321 RX PubMed=4778857; CC Sequence variation: Mutation; HGNC; HGNC:12814; XPA; Simple; p.Arg207Ter (c.619C>T); ClinVar=VCV000000996; Zygosity=Heterozygous (from familial inference of XP25RO). 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 Male AG Adult CA Finite cell line DT Created: 02-07-20; Last updated: 19-12-24; Version: 7 // RX PubMed=4778857; DOI=10.1016/0027-5107(73)90062-6; RA Kleijer W.J., de Weerd-Kastelein E.A., Sluyter M.L., Keijzer W., RA de Wit J., Bootsma D.; RT "UV-induced DNA repair synthesis in cells of patients with different RT forms of xeroderma pigmentosum and of heterozygotes."; RL Mutat. Res. 20:417-428(1973). //