ID   XP24MA
AC   CVCL_ZR29
SY   Xeroderma Pigmentosum 24 MAnnheim
DR   Wikidata; Q98135580
RX   PubMed=2054785;
RX   PubMed=7059984;
RX   PubMed=7161312;
RX   PubMed=7165374;
RX   PubMed=14705792;
CC   Population: Caucasian; German.
CC   Sequence variation: Mutation; HGNC; HGNC:9181; POLH; Simple; p.Lys220fs (c.661_764del); Zygosity=Homozygous (PubMed=14705792).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C141367; Xeroderma pigmentosum variant type
DI   ORDO; Orphanet_90342; Xeroderma pigmentosum variant
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   78Y
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 7
//
RX   PubMed=2054785;
RA   Thielmann H.W., Popanda O., Edler L., Jung E.G.;
RT   "Clinical symptoms and DNA repair characteristics of xeroderma
RT   pigmentosum patients from Germany.";
RL   Cancer Res. 51:3456-3470(1991).
//
RX   PubMed=7059984;
RA   Cleaver J.E.;
RT   "Inactivation of ultraviolet repair in normal and xeroderma
RT   pigmentosum cells by methyl methanesulfonate.";
RL   Cancer Res. 42:860-863(1982).
//
RX   PubMed=7161312; DOI=10.1007/BF00406246;
RA   Thielmann H.W., Popanda O., Edler L.;
RT   "XP patients from Germany: correlation of colony-forming ability,
RT   unscheduled DNA synthesis and single-strand breaks after UV damage in
RT   xeroderma pigmentosum fibroblasts.";
RL   J. Cancer Res. Clin. Oncol. 104:263-286(1982).
//
RX   PubMed=7165374; DOI=10.1007/BF00403726;
RA   Fischer E., Thielmann H.W., Neundorfer B., Rentsch F.J., Edler L.,
RA   Jung E.G.;
RT   "Xeroderma pigmentosum patients from Germany: clinical symptoms and
RT   DNA repair characteristics.";
RL   Arch. Dermatol. Res. 274:229-247(1982).
//
RX   PubMed=14705792; DOI=10.1034/j.1600-0625.2003.00124.x;
RA   Gratchev A., Strein P., Utikal J.S., Goerdt S.;
RT   "Molecular genetics of xeroderma pigmentosum variant.";
RL   Exp. Dermatol. 12:529-536(2003).
//