ID   iPSC DKC1 Q31E
AC   CVCL_UG53
SY   Q31E
DR   GEO; GSM1633298
DR   Wikidata; Q94323344
RX   PubMed=25992652;
CC   Sequence variation: Mutation; HGNC; HGNC:2890; DKC1; Simple; p.Gln31Glu (c.91C>G); ClinVar=VCV000038954; Zygosity=Hemizygous (PubMed=25992652).
CC   Omics: Transcriptomics; 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)
SX   Male
AG   50Y
CA   Induced pluripotent stem cell
DT   Created: 13-11-18; Last updated: 10-04-25; Version: 10
//
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:e0127414.1-e0127414.20(2015).
//