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; 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: 02-05-24; Version: 13
//
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   DOI=10.5962/bhl.title.4090;
RA   Coriell L.L., Greene A.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) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (1977).
//