ID GM01786 AC CVCL_0G94 SY GM-1786 DR CLO; CLO_0031011 DR BioSample; SAMN00807165 DR Coriell; GM01786 DR Wikidata; Q54837076 RX CelloPub=CLPUB00447; RX DOI=10.5962/bhl.title.4090; CC Sequence variation: Mutation; HGNC; HGNC:2890; DKC1; Simple; p.Leu37del (c.109_111delCTT); ClinVar=VCV000011583; Zygosity=Heterozygous (from familial inference of GM01774; GM01775). CC Derived from site: In situ; Skin; UBERON=UBERON_0002097. CC Cell type: Fibroblast of skin; CL=CL_0002620. OX NCBI_TaxID=9606; ! Homo sapiens (Human) SX Female AG 30Y CA Finite cell line DT Created: 10-04-15; Last updated: 19-12-24; Version: 14 CH CVCL_0H19 ! M3F-1 CH CVCL_0H20 ! M3F-2 // RX DOI=10.5962/bhl.title.4090; RA Coriell, Lewis Lemon RA Greene, Arthur E. RT "The human genetic mutant cell repository: list of genetic variants, RT chromosomal aberrations and normal cell cultures submitted to the RT repository. 4th edition. October 1977."; RL (In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977). // RX CelloPub=CLPUB00447; RA Mulivor, Richard A. RA Suchy, Sharon 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). //