ID   XP68TMA
AC   CVCL_1F34
SY   Xeroderma Pigmentosum Turkey MAlatya 68; GM14869
DR   CLO; CLO_0031924
DR   Coriell; GM14869
DR   Wikidata; Q54847484
RX   PubMed=11511294;
CC   Population: Turkish.
CC   Sequence variation: Mutation; HGNC; HGNC:12816; XPC; Simple; p.Arg579Ter (c.1735C>T); ClinVar=VCV000000259; Zygosity=Homozygous (PubMed=11511294).
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   Female
AG   3Y
CA   Finite cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 13
//
RX   PubMed=11511294; DOI=10.1046/j.1523-1747.2001.01424.x;
RA   Gozukara E.M., Khan S.G., Metin A., Emmert S., Busch D.B.,
RA   Shahlavi T., Coleman D.M., Miller M., Chinsomboon N., Stefanini M.,
RA   Kraemer K.H.;
RT   "A stop codon in xeroderma pigmentosum group C families in Turkey and
RT   Italy: molecular genetic evidence for a common ancestor.";
RL   J. Invest. Dermatol. 117:197-204(2001).
//