SY   Xeroderma Pigmentosum 38 BEthesda LCL; AG02593; AG2593
DR   Coriell; AG02593
DR   Wikidata; Q98135742
RX   CelloPub=CLPUB00387;
RX   PubMed=7253718;
CC   Sequence variation: Mutation; HGNC; 9181; POLH; Simple; p.Asp360Glyfs*32 (c.1078dupG) (c.1078_1079dupG); ClinVar=VCV001696282; Zygosity=Homozygous (from autologous cell line XP38BE).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Discontinued: Coriell; AG02593; probable.
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   8Y
CA   Transformed cell line
DT   Created: 02-07-20; Last updated: 29-06-23; Version: 7
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).