ID   XP96TA
AC   CVCL_M311
SY   Xeroderma Pigmentosum 96 Tel Aviv; GM16180
DR   CLO; CLO_0019814
DR   Coriell; GM16180
DR   Wikidata; Q54848343
RX   PubMed=12060391;
RX   PubMed=26184184;
CC   Population: Palestinian.
CC   Sequence variation: Mutation; HGNC; HGNC:3437; ERCC5; Simple; p.Leu308Serfs*12 (c.922_923delTC) (1116delTC); ClinVar=VCV000929130; Zygosity=Homozygous (PubMed=12060391; PubMed=26184184).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C3969; Xeroderma pigmentosum, complementation group G
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   6Y
CA   Finite cell line
DT   Created: 05-11-13; Last updated: 19-12-24; Version: 17
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RX   PubMed=12060391; DOI=10.1046/j.1523-1747.2002.01782.x;
RA   Emmert S., Slor H., Busch D.B., Batko S., Albert R.B., Coleman D.M.,
RA   Khan S.G., Abu-Libdeh B., DiGiovanna J.J., Cunningham B.B., Lee M.-M.,
RA   Crollick J., Inui H., Ueda T., Hedayati M., Grossman L., Shahlavi T.,
RA   Cleaver J.E., Kraemer K.H.;
RT   "Relationship of neurologic degeneration to genotype in three
RT   xeroderma pigmentosum group G patients.";
RL   J. Invest. Dermatol. 118:972-982(2002).
//
RX   PubMed=26184184; DOI=10.3390/ijms160715985; PMCID=PMC4519934;
RA   Bowden N.A., Beveridge N.J., Ashton K.A., Baines K.J., Scott R.J.;
RT   "Understanding xeroderma pigmentosum complementation groups using gene
RT   expression profiling after UV-light exposure.";
RL   Int. J. Mol. Sci. 16:15985-15996(2015).
//