ID   GM03193
AC   CVCL_AB29
DR   CLO; CLO_0013390
DR   BioSample; SAMN00808286
DR   Coriell; GM03193
DR   Wikidata; Q54837928
RX   CelloPub=CLPUB00447;
CC   Sequence variation: Mutation; HGNC; 2890; DKC1; Simple; p.Thr66Ala (c.196A>G); ClinVar=VCV000038946; Zygosity=Hemizygous (Coriell=GM03193).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C111802; Dyskeratosis congenita
DI   ORDO; Orphanet_1775; Dyskeratosis congenita
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   15Y
CA   Transformed cell line
DT   Created: 23-02-16; Last updated: 30-01-24; 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 misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992).
//