SY   Xeroderma Pigmentosum 38 BEthesda; AG02592; AG2592
DR   Coriell; AG02592
DR   Wikidata; Q98135739
RX   CelloPub=CLPUB00387;
RX   PubMed=7253718;
RX   PubMed=18368133;
CC   Sequence variation: Mutation; HGNC; 9181; POLH; Simple; p.Asp360Glyfs*32 (c.1078dupG) (c.1078_1079dupG); ClinVar=VCV001696282; Zygosity=Homozygous (PubMed=18368133).
CC   Discontinued: Coriell; AG02592; probable.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C141367; Xeroderma pigmentosum variant type
DI   ORDO; Orphanet_90342; Xeroderma pigmentosum variant
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   8Y
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 29-06-23; Version: 8
RX   CelloPub=CLPUB00387;
RA   Coriell L.L., Greene A.E., Mulivor R.A.;
RT   "The human genetic mutant cell repository: list of genetic variants,
RT   chromosomal aberrations and normal cell cultures submitted to the
RT   repository. 7th edition. October 1980.";
RL   (In) Institute for Medical Research (Camden, N.J.) NIH 80-2011; pp.1-254; National Institutes of Health; Bethesda (1980).
RX   PubMed=7253718; DOI=10.1016/0047-6374(81)90027-0;
RA   Das N.K., Murphy D.G.;
RT   "The National Institute on Aging repository cell cultures.";
RL   Mech. Ageing Dev. 16:1-17(1981).
RX   PubMed=18368133; DOI=10.1038/jid.2008.48;
RA   Inui H., Oh K.-S., Nadem C., Ueda T., Khan S.G., Metin A., Gozukara E.M.,
RA   Emmert S., Slor H., Busch D.B., Baker C.C., DiGiovanna J.J.,
RA   Tamura D., Seitz C.S., Gratchev A., Wu W.-H., Chung K.Y., Chung H.J.,
RA   Azizi E., Woodgate R., Schneider T.D., Kraemer K.H.;
RT   "Xeroderma pigmentosum-variant patients from America, Europe, and
RT   Asia.";
RL   J. Invest. Dermatol. 128:2055-2068(2008).