ID   XP30BE
AC   CVCL_M292
SY   Xeroderma Pigmentosum 30 BEthesda; GM05792; KR05792
DR   CLO; CLO_0024688
DR   Coriell; GM05792
DR   Wikidata; Q54841940
RX   PubMed=16081512;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:12816; XPC; Simple; p.Gln368Argfs*6 (c.1103_1104delAA) (delAA1208-1209); ClinVar=VCV000267279; Zygosity=Heterozygous (Coriell=GM05792).
CC   Sequence variation: Mutation; HGNC; HGNC:12816; XPC; Simple; p.Val548Alafs*25 (c.1639_1640TG[2]) (c.1643_1644delTG) (1744_1745delTG); ClinVar=VCV000000262; Zygosity=Heterozygous (Coriell=GM05792).
CC   Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
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)
OI   CVCL_M291 ! XP30BE LCL
SX   Male
AG   Age unspecified
CA   Finite cell line
DT   Created: 05-11-13; Last updated: 19-12-24; Version: 19
//
RX   PubMed=16081512; DOI=10.1093/carcin/bgi204;
RA   Khan S.G., Oh K.-S., Shahlavi T., Ueda T., Busch D.B., Inui H.,
RA   Emmert S., Imoto K., Muniz-Medina V., Baker C.C., DiGiovanna J.J.,
RA   Schmidt D., Khadavi A., Metin A., Gozukara E.M., Slor H., Sarasin A.,
RA   Kraemer K.H.;
RT   "Reduced XPC DNA repair gene mRNA levels in clinically normal parents
RT   of xeroderma pigmentosum patients.";
RL   Carcinogenesis 27:84-94(2006).
//