ID   iPSC DKC1 Del37 #2
AC   CVCL_UG52
SY   Del37 #2; Del372
DR   GEO; GSM1633297
DR   Wikidata; Q94323341
RX   PubMed=25992652;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 2890; DKC1; Simple; p.Leu37del (c.109_111delCTT); ClinVar=VCV000011583; Zygosity=Hemizygous (PubMed=25992652).
CC   Omics: Transcriptome analysis by microarray.
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)
HI   CVCL_7336 ! GM01774
SX   Male
AG   7Y
CA   Induced pluripotent stem cell
DT   Created: 13-11-18; Last updated: 29-06-23; Version: 8
//
RX   PubMed=25992652; DOI=10.1371/journal.pone.0127414; PMCID=PMC4436374;
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).
//