ID   GM01774
AC   CVCL_7336
SY   GM-1774; GM01774A
DR   CLO; CLO_0031003
DR   BioSample; SAMN00807153
DR   Coriell; GM01774
DR   Wikidata; Q54837067
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=25992652;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 2890; DKC1; Simple; p.Leu37del (c.109_111delCTT); ClinVar=VCV000011583; Zygosity=Hemizygous (Coriell=GM01774).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C111802; Dyskeratosis congenita
DI   ORDO; Orphanet_1775; Dyskeratosis congenita
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_D515 ! GM01775
SX   Male
AG   7Y
CA   Finite cell line
DT   Created: 04-04-12; Last updated: 30-01-24; Version: 18
//
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).
//
RX   PubMed=25992652; DOI=10.1371/journal.pone.0127414;
RA   Gu B.-W., Apicella M., Mills J.A., Fan J.-M., Reeves D.A., French D.L.,
RA   Podsakoff G.M., Bessler M., Mason P.J.;
RT   "Impaired telomere maintenance and decreased canonical WNT signaling
RT   but normal ribosome biogenesis in induced pluripotent stem cells from
RT   X-linked dyskeratosis congenita patients.";
RL   PLoS ONE 10:E0127414-E0127414(2015).
//