ID   XP102LO
AC   CVCL_WX47
SY   Xeroderma Pigmentosum 102 LOndon
DR   Wikidata; Q98135165
RX   PubMed=3347209;
RX   PubMed=4066782;
RX   PubMed=6947227;
RX   PubMed=7585650;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 3434; ERCC2; Simple; p.Leu461Val (c.1381C>G); ClinVar=VCV000016779; Zygosity=Heterozygous (PubMed=7585650).
CC   Sequence variation: Mutation; HGNC; 3434; ERCC2; Simple; p.Arg683Trp (c.2047C>T); ClinVar=VCV000016793; Zygosity=Heterozygous (PubMed=7585650).
CC   Sequence variation: Mutation; HGNC; 3434; ERCC2; Simple; p.Ala717Gly (c.2150C>G) (p.Val716_Arg730del); ClinVar=VCV000134102; Zygosity=Heterozygous; Note=Creates a cryptic donor splice site (PubMed=7585650).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C3967; Xeroderma pigmentosum, complementation group D
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_ZS55 ! XP59BR
SX   Female
AG   18Y
CA   Finite cell line
DT   Created: 06-09-19; Last updated: 29-06-23; Version: 9
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RX   PubMed=3347209; DOI=10.1016/0167-8817(88)90048-x;
RA   Squires S., Johnson R.T.;
RT   "Kinetic analysis of UV-induced incision discriminates between
RT   fibroblasts from different xeroderma pigmentosum complementation
RT   groups, XPA heterozygotes and normal individuals.";
RL   Mutat. Res. 193:181-192(1988).
//
RX   PubMed=4066782; DOI=10.1242/jcs.76.1.115;
RA   Johnson R.T., Squires S., Elliott G.C., Koch G.L.E., Rainbow A.J.;
RT   "Xeroderma pigmentosum D-HeLa hybrids with low and high ultraviolet
RT   sensitivity associated with normal and diminished DNA repair ability,
RT   respectively.";
RL   J. Cell Sci. 76:115-133(1985).
//
RX   PubMed=6947227; DOI=10.1073/pnas.78.10.6236;
RA   Miskin R., Ben-Ishai R.;
RT   "Induction of plasminogen activator by UV light in normal and
RT   xeroderma pigmentosum fibroblasts.";
RL   Proc. Natl. Acad. Sci. U.S.A. 78:6236-6240(1981).
//
RX   PubMed=7585650;
RA   Takayama K., Salazar E.P., Lehmann A.R., Stefanini M., Thompson L.H.,
RA   Weber C.A.;
RT   "Defects in the DNA repair and transcription gene ERCC2 in the
RT   cancer-prone disorder xeroderma pigmentosum group D.";
RL   Cancer Res. 55:5656-5663(1995).
//