ID   XPPHBE
AC   CVCL_AK35
SY   GM02449; GM02449B; GM02449C
DR   CLO; CLO_0033324
DR   BioSample; SAMN00807787
DR   Coriell; GM02449
DR   Wikidata; Q54837500
RX   CelloPub=CLPUB00447;
RX   PubMed=10398605;
CC   Sequence variation: Mutation; HGNC; 9181; POLH; Simple; p.Asn359fs (c.1078insG); Zygosity=Heterozygous (PubMed=10398605).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C141367; Xeroderma pigmentosum variant type
DI   ORDO; Orphanet_90342; Xeroderma pigmentosum variant
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   30Y
CA   Transformed cell line
DT   Created: 02-05-16; Last updated: 29-06-23; Version: 12
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//
RX   PubMed=10398605; DOI=10.1126/science.285.5425.263;
RA   Johnson R.E., Kondratick C.M., Prakash S., Prakash L.;
RT   "hRAD30 mutations in the variant form of xeroderma pigmentosum.";
RL   Science 285:263-265(1999).
//