ID   XP25BE LCL
AC   CVCL_M289
SY   Xeroderma Pigmentosum 25 BEthesda LCL; GM04490; KR04490
DR   CLO; CLO_0019668
DR   BioSample; SAMN00795297
DR   Coriell; GM04490
DR   Wikidata; Q54838537
RX   PubMed=16081512;
CC   Population: African American.
CC   Sequence variation: Mutation; HGNC; HGNC:12816; XPC; Unexplicit; IVS11-1_IVS11-2delAG; Zygosity=Homozygous (PubMed=16081512).
CC   Sequence variation: Mutation; HGNC; HGNC:12816; XPC; Unexplicit; IVS11-6_IVS11-7insCC; Zygosity=Homozygous (PubMed=16081512).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C114770; Xeroderma pigmentosum, complementation group C
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_M288 ! XP25BE
SX   Female
AG   7Y
CA   Transformed cell line
DT   Created: 05-11-13; Last updated: 19-12-24; Version: 16
//
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).
//