ID   XP12TA
AC   CVCL_7652
SY   Xeroderma Pigmentosum 12 Tel Aviv; GM16684
DR   CLO; CLO_0017452
DR   Coriell; GM16684
DR   Wikidata; Q54848696
RX   PubMed=11121128;
CC   Population: Jewish; Ashkenazi.
CC   Sequence variation: Mutation; HGNC; HGNC:12816; XPC; Simple; p.Tyr189Serfs*10 (c.564_565AT[1]) (del AT 669-670); ClinVar=VCV000000258; Zygosity=Homozygous (PubMed=11121128).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C114770; Xeroderma pigmentosum, complementation group C
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   5Y
CA   Finite cell line
DT   Created: 04-04-12; Last updated: 19-12-24; Version: 15
//
RX   PubMed=11121128; DOI=10.1046/j.1523-1747.2000.00190.x;
RA   Slor H., Batko S., Khan S.G., Sobe T., Emmert S., Khadavi A.,
RA   Frumkin A., Busch D.B., Albert R.B., Kraemer K.H.;
RT   "Clinical, cellular, and molecular features of an Israeli xeroderma
RT   pigmentosum family with a frameshift mutation in the XPC gene: sun
RT   protection prolongs life.";
RL   J. Invest. Dermatol. 115:974-980(2000).
//