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).
//